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American Journal Of Biomedical Science & Pharmaceutical Innovation    
(ISSN – 2771-2753) 
VOLUME 04 ISSUE 07 PAGES: 16-27 

OCLC – 1121105677     

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

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ABSTRACT 

Respiratory distress syndrome (RDS) is one of the main causes of respiratory diseases and mortality among premature 

newborns. It requires intensive medical care, including mechanical ventilation and surfactant therapy. Timely 

detection and treatment of RDS are vital to prevent severe complications and improve outcomes in newborns. The 

study of genetic mutations, such as SFTPB, SFTPC, and ABCA3, which affect the production and function of surfactant, 

contributes to a deeper understanding of the pathophysiology of RDS and the development of targeted therapies. 

Treating newborns with RDS requires significant resources, including prolonged stays in neonatal intensive care units, 

increasing healthcare costs. Understanding genetic predisposition and individual risks for developing RDS allows for 

personalized approaches to treatment and prevention, improving the quality of medical care. Identifying risk factors 

such as cesarean section, multiple pregnancies, and maternal diseases helps develop preventive strategies to reduce 

RDS incidence. Research is ongoing to improve existing treatment methods and develop new therapeutic strategies, 

such as stem cell and gene therapy, to enhance outcomes in patients with RDS. 

KEYWORDS 

Respiratory distress syndrome, genetic research, SFTPB, SFTPC, ABCA3. 

INTRODUCTION

  Research Article 

 

GENETIC RISK OF RESPIRATORY DISTRESS IN INFANTS 
 

Submission Date: July 03, 2024, Accepted Date:  July 08, 2024,  

Published Date: July 13, 2024  

Crossref doi: https://doi.org/10.37547/ajbspi/Volume04Issue07-03 

 

 

KHamidova Farida Muinovna  
Samarkand State Medical University, Department of Pathological Anatomy with the Course of Dissection, 

Samarkand, Uzbekistan 

 

Ruzikulov Sobir Jovlievich  
Samarkand State Medical University, Department of Pathological Anatomy with the Course of Dissection, 

Samarkand, Uzbekistan 

 

Journal Website: 

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Copyright: Original 

content from this work 

may be used under the 

terms of the creative 

commons attributes 

4.0 licence. 

 

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VOLUME 04 ISSUE 07 PAGES: 16-27 

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Respiratory distress syndrome (RDS) is a respiratory 

disorder in newborns that manifests immediately after 

birth and is one of the most common causes of 

admission to neonatal intensive care units and 

respiratory failure (1). Factors contributing to the 

development of RDS include maladaptation, delayed 

adaptation, congenital anomalies, and acquired 

infections (2). The prevalence of RDS among newborns 

is 18.5% in France (3), 4.24% in Pakistan (4), and 20.5% in 

China (5). RDS also occurs in full-term infants, 

accounting for 6.8% of cases (7). Another study found 

that 48 out of 1986 newborns (2.42%) developed RDS, 

of which 7 (14.6%) weighed more than 2500 grams (8). 

Registered risk factors for RDS include male gender, 

cesarean section, maternal diseases (hypertension, 

diabetes), chorioamnionitis, and multiple pregnancies 

(10, 11, 12). The prognosis of RDS depends on the 

severity and underlying cause (5). In China, a mortality 

rate of 3.9% was reported among full-term infants with 

RDS (12). The incidence of RDS among full-term 

newborns was 1.64%, with higher rates reported in 

India (4.2%) (13), Turkey (7%) (14), and Sudan (4.83%) 

(15). A prospective multicenter study in Italy showed a 

lower incidence of RDS (1.16%) in full-term newborns 

(16). Artificial conception is also associated with an 

increased risk of RDS. 

Recognizing risk factors for RDS is crucial for 

developing preventive and early treatment strategies 

(18). While the RDS group had more cases of cesarean 

section and PROM, this did not reach statistical 

significance. The association between cesarean section 

and RDS has been confirmed in previous studies (19). 

Gouyon JB et al. (20) established that elective cesarean 

section is a major risk factor for RDS in full-term infants. 

Fetal growth restriction (FGR) requires a unified 

approach for early recognition and management to 

improve antenatal and postnatal outcomes. FGR 

management mainly focuses on the timing and mode 

of delivery, with an emphasis on continuous fetal heart 

rate monitoring and placental histopathological 

examination (21). Managing pregnancies complicated 

by FGR or small for gestational age (SGA) fetuses 

requires standardized approaches and further 

research to improve outcomes (22). Twin pregnancies 

are associated with a high risk of complications, and 

recommendations from various professional societies 

often diverge, highlighting the need for international 

consensus (23, 24). Premature births occur more 

frequently via cesarean section, with early gestational 

age being the main factor for neonatal morbidity and 

mortality, while the mode of delivery does not affect 

neonatal survival (25). Vaginal delivery in severe 

preterm births is associated with an increased risk of 

neonatal and perinatal mortality in breech 

presentation fetuses (26). 

The onset of spontaneous labor promotes the rapid 

clearance of fetal lung fluid and lung maturation (27). 

Antenatal corticosteroids for women at risk of preterm 

labor reduce the risk of moderate and severe RDS (28). 

In our study, infants with RDS had lower birth weights 

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and lower Apgar scores (29). The mortality rate among 

full-term infants with RDS was 5.1%, which may be 

associated with the widespread use of oxygen and 

continuous positive airway pressure (CPAP) (13, 30). 

Some risk factors affect the incidence of RDS 

differently at different gestational ages (31). 

Identifying genetic mutations and polymorphisms 

associated with RDS will allow the development of 

more rational treatment strategies and accurate 

counseling for families whose children are at risk (32). 

The incidence of RDS in preterm infants is 45% at 23-33 

weeks of gestation, decreasing to 4% at 34-36 weeks 

and less than 1% at over 37 weeks. In Korea, the 

incidence of RDS in full-term infants was more often 

observed in males (OR 3.288), with cesarean section 

(OR 15.03), and multiple pregnancies (OR 4.216) (33). 

RDS often arises from a deficiency of surfactant, which 

is synthesized by type II alveolocytes. Surfactant 

consists of lipids and proteins (SP-A, SP-B, SP-C, SP-D). 

Mutations in the genes encoding these proteins 

(SFTPB, SFTPC, ABCA3) can lead to surfactant 

dysfunction and RDS. For example, the SFTPB 

mutation, 121ins2, accounts for more than half of all 

cases of SP-B deficiency, inherited in an autosomal 

recessive manner. SP-C deficiency is inherited in an 

autosomal dominant manner, and ABCA3 mutations 

are a major cause of congenital surfactant dysfunction. 

In a retrospective analysis of 332 twin pairs, a mixed-

effects logistic regression analysis (MELR) was used to 

assess the influence of various factors on RDS. Male 

gender, birth weight, 5-minute Apgar score, and 

treatment site were significant covariates. ACE analysis 

showed that 49.7% of the variability in RDS 

susceptibility is due to genetic factors (34). 

Inherited SP-B deficiency is a rare cause of respiratory 

failure in full-term newborns. Homozygosity for the 

SFTPB mutation (1549C->GAA or 121ins2) leads to fatal 

respiratory failure with the absence of SP-B mRNA and 

protein. SP-B deficiency is also associated with 

abnormal processing of proSP-C and a deficiency of 

active SP-C peptide (35). 

Pulmonary surfactant protein A (SP-A) plays a key role 

in lung protection and surfactant function. The genetic 

complexity of SP-A has increased during evolution, 

especially in regulatory regions. Most species have one 

SP-A gene, but humans and primates have two genes 

(SFTPA1 and SFTPA2). SP-A expression regulation 

involves transcription, splicing, mRNA degradation, 

and translation. This report aims to describe the 

genetic complexity of the SFTPA1 and SFTPA2 genes 

and review the regulatory mechanisms controlling 

their expression (36). 

Pulmonary surfactant, a lipoprotein complex, 

maintains alveolar integrity and plays an important role 

in lung protection and inflammation control. Genetic 

variants of surfactant proteins, including single 

nucleotide polymorphisms (SNPs), haplotypes, and 

other variations, have been associated with acute and 

chronic lung diseases. Hydrophilic surfactant proteins 

SP-A and SP-D, also known as collectins, play an 

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important role in innate immunity by binding to 

pathogens and allergens and promoting their 

clearance. A review of studies links genetic 

polymorphisms of surfactant proteins A and D with 

respiratory and non-respiratory diseases in adults, 

children, and newborns (37). 

Case-control groups showed significant differences in 

genotype and allele frequencies of SP-A (+186A/G, 

+655C/T) and SP-B (1580C/T), indicating an association 

of these polymorphisms with the risk of RDS in preterm 

infants. Decreased serum SP-A levels may serve as new 

biomarkers for the detection and monitoring of RDS 

(38). 

The frequencies of SP-A1 6A2 and 6A3 alleles were low, 

while SP-A2 1A0 and 1A1 alleles were high in normal 

preterm Chinese infants. The SP-A1 6A2 allele may be a 

susceptibility gene for RDS (39). The SP-B 1580C/T 

polymorphism contributes to the etiology of RDS, 

while SP-B -18A/C shows no significant association (41). 

Specific genetic variants of SP-A may affect the 

susceptibility to RDS in preterm infants, independent 

of other perinatal factors (43). RDS is caused by lung 

immaturity and a temporary deficiency of alveolar 

surfactant. Genetic predisposition to RDS varies 

depending on the degree of prematurity. Genetic 

variability in the SP-A and SP-B genes is associated with 

susceptibility to RDS, while rare mutations in SP-B and 

SP-C cause severe lung disease. Genetic studies may 

lead to new diagnostic and therapeutic approaches for 

preventing respiratory failure and inflammatory lung 

diseases (44, 45).  

Unlike lethal neonatal RDS caused by homozygous 

ABCA3 mutations, individual ABCA3 mutations account 

for ~10.9% of the attributable risk among full-term and 

late preterm infants of European descent. These 

mutations are prevalent among individuals of 

European and African descent in the general 

population (46). Rare or novel genetic variants in the 

genes encoding surfactant proteins were identified in 

35% of preterm infants with severe RDS, indicating 

possible interaction between genetic and 

developmental factors (47). Mutations in the genes 

encoding surfactant proteins B and C (SP-B and SP-C) 

and the phospholipid transporter ABCA3 are 

associated with respiratory distress and interstitial 

lung disease. The expression of these proteins 

increases with gestational age and is crucial for 

surfactant function. SP-B and ABCA3 are necessary for 

packaging surfactant phospholipids, while SP-B and SP-

C are important for surfactant adsorption on the 

alveolar surface. SFTPB mutations are associated with 

fatal neonatal RDS, while SFTPC mutations are linked 

to interstitial lung disease in infants, children, and 

adults (48). 

Congenital surfactant deficiency (CSD) is a neonatal 

disease associated with defects in the synthesis and 

secretion of surfactant in type II alveolar cells. 

Abnormal lamellar bodies were identified in four 

infants with CSD. Two had SP-B deficiency, and two had 

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ABCA3 mutations. Transmission electron microscopy 

(TEM) revealed the absence of mature lamellar bodies 

and the presence of electron-dense inclusions, 

highlighting the importance of TEM for CSD diagnosis 

(49, 50). 

Heterozygous SFTPC mutations are associated with 

interstitial lung disease (pILD) in adults and children. 

ABCA3 mutations also cause pILD and can modify 

disease severity in patients with SFTPC mutations (52). 

SFTPC mutations lead to various manifestations and 

outcomes. For example, the c.435G->A mutation is 

associated with early symptom onset and severe 

respiratory failure requiring lung transplantation (53). 

SFTPC mutations can also alter surfactant protein 

trafficking and processing, affecting clinical 

manifestations (54). 

SFTPC mutations and other genetic factors play a 

significant role in the development and manifestation 

of pediatric interstitial lung diseases. Genetic testing is 

essential for diagnosing such diseases (55-60). 

Knowledge of airway anomalies and their association 

with genetic mutations is crucial for the correct 

diagnosis and treatment of respiratory distress in 

newborns (61, 62). Among 17 children from 16 families 

with mutations in the SFTPC, ABCA3, and NKX2-1 genes, 

congenital deficiency of surfactant protein C, brain-

lung-thyroid syndrome (BLTS), and congenital ABCA3 

protein deficiency were observed. The lethality rate for 

surfactant protein C deficiency was 37.5%. Genetic 

testing is necessary for children with severe respiratory 

distress syndrome and a family history, as well as in 

cases where respiratory symptoms are combined with 

congenital hypothyroidism and neurological pathology 

(63, 64, 65, 66). 

The risk of respiratory disorders in newborn boys 

carrying the 2A allele and the 1A2A genotype of the 

T3801C polymorphic locus of the CYP1A1 gene is twice 

as high. The 1A1F genotype of the C-163A polymorphic 

locus of the CYP1A2 gene is a marker for the risk of RDS 

complicated by pneumonia (67). A study of 130 

pregnancies with FGR and structural malformations 

showed that 28.5% of cases had chromosomal 

abnormalities. Using SNP arrays and CMV DNA testing 

in FGR cases can improve pregnancy diagnosis and 

management (68, 69, 70). Genetic variation in LPCAT1 

may be involved in the pathophysiology of RDS in 

preterm infants of the Han Chinese population. The GG 

genotype and G allele of rs9728 are protective factors 

for RDS development (71). The NK2 homeobox-1 gene 

(NKX2.1) is associated with the morphogenesis and 

function of the lungs, thyroid, and CNS. Mutations 

cause a rare form of progressive respiratory failure 

known as brain-lung-thyroid syndrome. Deletions at 

14q13.3 adjacent to NKX2-1 can cause various 

symptoms, including choreoathetosis, congenital 

hypothyroidism, and respiratory distress syndrome. 

Genetic testing is important for diagnosing and 

managing these diseases (72-76). 

Thus, the role of genetic defects in the development of 

neonatal RDS is an important aspect in understanding 

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the pathophysiology of the disease. Genetic 

polymorphisms and mutations in surfactant protein 

genes significantly influence susceptibility to RDS and 

can be used to improve diagnosis, prevention, and 

treatment of this serious condition. 

CONCLUSIONS 

1. Risk factors for full-term newborns include 

male gender, cesarean section, and multiple 

pregnancies. Early diagnosis and treatment are 

necessary to prevent complications. 

2. Genetic mutations in the SFTPB, SFTPC, and 

ABCA3 genes encoding surfactant proteins can lead to 

RDS and interstitial lung diseases with various clinical 

manifestations. 

3. Genetic variability in surfactant protein genes 

and transporters, such as ABCA3, may enhance the 

effect of immature surfactant production, worsening 

the course of RDS. 

4. The molecular mechanisms of RDS are 

associated with surfactant deficiency, disrupting its 

function and leading to respiratory disorders. 

5. Transcription factors and genes regulating 

surfactant protein expression are important for lung 

development and function and are candidates for 

research on new treatments for RDS. 

6. Population genetic studies will help 

understand the contribution of genetic mutations to 

the incidence of RDS and other lung diseases, 

improving treatment strategies and genetic 

counseling. 

REFERENCES 

1. Horowitz K, Feldman D, Stuart B, Borgida A, 

Ming Victor, Fang Y, Herson V. // Full-term 

neonatal intenstive care unit admission in an 

urban community hospital: the role of 

respiratory morbidity. The Journal of Maternal-

Fetal & Neonatal Medicine. 2011;24(11):1407–

1410. 

2. Gallacher D, Hart K, Kotecha S. // Common 

respiratory conditions of the newborn. 

Breathe. 2016;12(1):30–42. 

3. Chalacon M, Debillon T, Plantaz D, Ego A. // 

Facteurs de risque de détresse respiratoire 

chez les prématurés modérés (32 à 34 

semaines d’aménorrhée) [Internet] Médecine 

humaine et pathologie. 2012. 

4. Saeed Z, Lutufullah G, Hassan R. Prevalence 

and Aetiology of Respiratory Distress in 

newborns. PAFMJ. 2013 Mar;63(1). 

5. Qian L, Liu C, Guo Y, et al. // Current status of 

neonatal acute respiratory disorders: a one-

year prospective survey from a Chinese 

neonatal network. Chin Med J (Engl) 

2010;123:2769–2775 

6. Jian Wang, Xuehua Liu, Tong Zhu, Chaoying 

Yan. 2015 

7. Bouziri A, Ben Slima S, Hamdi A, et al.  // Acute 

respiratory distress syndrome in infants at 

term and near term about 23 cases. Tunis Med. 

2007;85:874–879. 

https://doi.org/10.37547/ajbspi/Volume03Issue03-01
https://scholar.google.co.in/scholar?q=
https://www.mendeley.com/search/?page=1&query=


Volume 04 Issue 07-2024 22 

                 

 
 

   
  
 

American Journal Of Biomedical Science & Pharmaceutical Innovation    
(ISSN – 2771-2753) 
VOLUME 04 ISSUE 07 PAGES: 16-27 

OCLC – 1121105677     

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Publisher: Oscar Publishing Services 

Servi 

8. Nagendra K, Wilsom CG, Ravichander B, Sood 

S, Singh SP. // Incidence and Etiology of 

Respiratori Distress in Newborn. Med J Armed 

Forces India. 2017;55(4):331–333 

9. Ghafoor T, Mahmud S, Ali S, Dogar SA.  // 

Incidence of respiratory distress syndrome. 

Journal of the College of Physicians and 

Surgeons, Pakistan : JCPSP. 2003;13(5):271–273 

10. Reuter S, Moser C, Baack M.  // Respiratory 

Distress in the Newborn. Pediatrics in Review. 

2014;35(417)/ 

11. Hansen AK, Wisborg K, Uldbjerg N, Henriksen 

TB.  // Risk of respiratory morbidity in term 

infants delivered by elective caesarean section: 

cohort study. BMJ. 2008;336:85–87. 

12. Jing Liu, Na Yang, Ying Liu. // High-risk Factors 

of Respiratory Distress Syndrome in Term 

Neonates: A Retrospective Case-control Study. 

Balkan Med J. 2014;31(1):64–68. 

13. Kumar A, Bhat BV. // Epidemiology of 

respiratory distress of newborns. Indian 

journal of pediatrics. 1996;63(1):93–98. 

14. Fedakar A, Aydogdu C. // Clinical features of 

neonates treated in the intensive care unit for 

respiratory distress. The Turkish journal of 

pediatrics. 2011;53(2):173–179 

15. Abdelrahman SM, Hamed SM, Nasr A. // 

Neonatal respiratory distress in Omdurman 

Maternity Hospital, Sudan. Sudanese journal of 

paediatrics. 2014;14(1):65–70 

16. Rubaltelli FF, Dani C, Reali MF, et al. // Italian 

Group of Neonatal Pneumology. Acta 

paediatrica. 12. Vol. 87. Oslo, Norway: 1992. 

Acute neonatal respiratory distress in Italy: a 

one-year prospective study; pp. 1261–1268. 

1998 

17. Erin V McGillick, Sandra Orgeig , Marie T 

Williams, Janna L Morrison. // Risk of 

Respiratory Distress Syndrome and Efficacy of 

Glucocorticoids: Are They the Same in the 

Normally Grown and Growth-Restricted Infant? 

J Matern Fetal Neonatal Med. 2017 

Jun;30(11):1267-1272. 

18. Edwards MO, Kotecha SJ, Kotecha S. // 

Respiratory distress of the term newborn 

infant. Paediatric respiratory reviews. 

2013;14(1):29–36. quiz -7. 

19. Sun H, Xu F, Xiong H, et al.  // Characteristics of 

respiratory distress syndrome in infants of 

different gestational ages. Lung. 

2013;191(4):425–433. 

20. Gouyon JB, Ribakovsky C, Ferdynus C, Quantin 

C, Sagot P, Gouyon B. // Severe respiratory 

disorders in term neonates. Paediatric and 

perinatal epidemiology. 2008;22(1):22–30 

21. Sonia Giouleka , Ioannis Tsakiridis , Apostolos 

Mamopoulos , Ioannis Kalogiannidis , 

Apostolos Athanasiadis , Themistoklis Dagklis // 

Fetal Growth Restriction: A Comprehensive 

https://doi.org/10.37547/ajbspi/Volume03Issue03-01
https://scholar.google.co.in/scholar?q=
https://www.mendeley.com/search/?page=1&query=


Volume 04 Issue 07-2024 23 

                 

 
 

   
  
 

American Journal Of Biomedical Science & Pharmaceutical Innovation    
(ISSN – 2771-2753) 
VOLUME 04 ISSUE 07 PAGES: 16-27 

OCLC – 1121105677     

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Publisher: Oscar Publishing Services 

Servi 

Review of Major Guidelines. Obstet Gynecol 

Surv. 2023 Nov;78(11):690-708.  

22. Lesley M McCowan, Francesc Figueras, Ngaire 

H Anderson. // Evidence-based national 

guidelines for the management of suspected 

fetal growth restriction: comparison, 

consensus, and controversy. J Obstet Gynecol. 

2018 Feb;218(2S):S855-S868. 

23. Omer Weitzner, Jon Barrett , Kellie E Murphy , 

John Kingdom , Amir Aviram , Elad Mei-Dan , 

Liran Hiersch , Greg Ryan, Tim Van Mieghem , 

Nimrah Abbasi , Nathan S Fox, Andrei Rebarber 

, Vincenzo Berghella , Nir Melamed. //  National 

and international guidelines on the 

management of twin pregnancies: a 

comparative review. Am J Obstet Gynecol. 

2023 Dec;229(6):577-598.  

24. Ioannis Tsakiridis, Sonia Giouleka , Apostolos 

Mamopoulos , Apostolos Athanasiadis , 

Themistoklis Dagklis. // Management of Twin 

Pregnancies: A Comparative Review of 

National and International Guidelines Obstet 

Gynecol Surv. 2020 Jul;75(7):419-430.  

25. Kyriaki Mitta, Ioannis Tsakiridis, Georgios 

Kapetanios, Antigoni Pavlaki , Efthymios 

Tarnanidis , Themistoklis Dagklis , Apostolos 

Athanasiadis, Apostolos Mamopoulos. // Mode 

of Delivery and Neonatal Outcomes of Preterm 

Deliveries: A Retrospective Study in Greece. 

Medicina (Kaunas). 2023 Dec 20;60(1):10. 

26. E Demertzidou, C Chatzakis , P Cavoretto, K 

Sarafidis, M Eleftheriades, A Gerede, K Dinas , 

A Sotiriadis  // Effect of mode of delivery on 

perinatal outcome in severe preterm birth: 

systematic review and meta-analysis 

Ultrasound Obstet Gynecol. 2023 

Oct;62(4):471-485.  

27. Ramachandrappa A, Jain L. // Elective Cesarean 

Section: It’s Impact on Neonatal Respiratory 

Outcome. Clinics in perinatology. 2008;35(2) 

373-vii 

28. Roberts D, Brown J, Medley N, Dalziel SR. // 

Antenatal corticosteroids for accelerating fetal 

lung maturation for women at risk of preterm 

birth. The Cochrane database of systematic 

reviews. 2017;3:Cd004454 

29. Condo V, Cipriani S, Colnaghi M, et al. // 

Neonatal respiratory distress syndrome: are 

risk factors the same in preterm and term 

infants? The journal of maternal-fetal & 

neonatal medicine. the official journal of the 

European Association of Perinatal Medicine, 

the Federation of Asia and Oceania Perinatal 

Societies, the International Society of Perinatal 

Obstet. 2017;30(11):1267–1272. 

30. Liu J, Shi Y, Dong JY, et al. // Clinical 

characteristics, diagnosis and management of 

respiratory distress syndrome in full-term 

neonates. Chinese medical journal. 

2010;123(19):2640–2644 

https://doi.org/10.37547/ajbspi/Volume03Issue03-01
https://scholar.google.co.in/scholar?q=
https://www.mendeley.com/search/?page=1&query=


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Publisher: Oscar Publishing Services 

Servi 

31. Condò, V., Cipriani, S., Colnaghi, M., Bellù, R., 

Zanini, R., Bulfoni, C., … Mosca, F. // Neonatal 

respiratory distress syndrome: are risk factors 

the same in preterm and term infants? The 

Journal of Maternal-Fetal & Neonatal 

Medicine, 2016. 30(11), 1267–1272.  

32. F. SESSIONS COLE, AARON HAMVAS, AND 

LAWRENCE M. // Genetic Disorders of Neonatal 

Respiratory Function. NOGEE Vol. 50, No. 2, 

2001 

33. Jin Hyeon Kim, Sang Min Lee, Young Hwan Lee. 

//Risk factors for respiratory distress syndrome 

in full-term neonates. Department of 

Pediatrics, Yeungnam University College of 

Medicine, Daegu, Korea Yeungnam Univ J Med 

2018;35(2):187-191 

34. ORLY LEVIT, YUAN JIANG, MATTHEW J. 

BIZZARRO, NAVEED HUSSAIN, CATALIN S. 

BUHIMSCHI, JEFFREY R. GRUEN, HEPING 

ZHANG, AND VINEET BHANDARI 2009 

35. Tredano M, van Elburg RM, Kaspers AG, 

Zimmermann LJ, Houdayer C, Aymard P, Hull 

WM, Whitsett JA, Elion J, Griese M, Bahuau M. 

1999 

36. Silveyra P., Floros J. // Genetic complexity of the 

human surfactant-associated proteins SP-A1 

and SP-A2 //Gene. – 2013. – Т. 531. – №. 2. – С. 

126-132 

37. Silveyra P., Floros J. // Genetic variant 

associations of human SP-A and SP-D with 

acute and chronic lung injury //Frontiers in 

bioscience: a journal and virtual library. – 2012. 

– Т. 17. – С. 407 

38. Чанг Х. И. и др. // Генетические 

полиморфизмы SP-A, SP-B и SP-D и риск 

респираторного дистресс-синдрома у 

недоношенных новорожденных //Medical 

Science Monitor: Международный 

медицинский журнал экспериментальных и 

клинических исследований. – 2016. – Т. 22. – 

С. 5091. 

39. W Wang X, Zhang Y, Mei H, An C, Liu C, Zhang 

Y, Zhang Y, Xin C.  // Study on the Relationship 

Between Respiratory Distress Syndrome and 

SP-A1 (rs1059057) Gene Polymorphism in 

Mongolian Very Premature Infants. Front 

Pediatr. 2020 Mar 17;8:81.  

40. Zhai L, Wu HM, Wei KL, Zhao SM, Jiang H. // 

Genetic polymorphism of surfactant protein A 

in neonatal respiratory distress syndrome]. 

Zhongguo Dang Dai Er Ke Za Zhi. 2008 

Jun;10(3):295-8. Chinese.  

41. Liu Y, Wang X, Li P, Zhao Y, Yang L, Yu W, Xie H.  

// Targeting MALAT1 and miRNA-181a-5p for the 

intervention of acute lung injury/acute 

respiratory distress syndrome. Respir Res. 2021 

Jan 6;22(1):1. 

42. Chang HY, Li F, Li FS, Zheng CZ, Lei YZ, Wang J. 

// Genetic Polymorphisms of SP-A, SP-B, and SP-

D and Risk of Respiratory Distress Syndrome in 

https://doi.org/10.37547/ajbspi/Volume03Issue03-01
https://scholar.google.co.in/scholar?q=
https://www.mendeley.com/search/?page=1&query=


Volume 04 Issue 07-2024 25 

                 

 
 

   
  
 

American Journal Of Biomedical Science & Pharmaceutical Innovation    
(ISSN – 2771-2753) 
VOLUME 04 ISSUE 07 PAGES: 16-27 

OCLC – 1121105677     

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Publisher: Oscar Publishing Services 

Servi 

Preterm Neonates. Med Sci Monit. 2016 Dec 

24;22:5091-5100.  

43. Tsitoura MI, Stavrou EF, Maraziotis IA, Sarafidis 

K, Athanassiadou A, Dimitriou G. // Surfactant 

Protein A and B Gene Polymorphisms and Risk 

of Respiratory Distress Syndrome in Late-

Preterm Neonates. PLoS One. 2016 Nov 

11;11(11):e0166516. 

44. Hallman M, Haataja R. // Genetic basis of 

respiratory distress syndrome. Front Biosci. 

2007 Jan 1;12:2670-82. 

45. Hallman M, Haataja R, Marttila R. // Surfactant 

proteins and genetic predisposition to 

respiratory distress syndrome. Semin 

Perinatol. 2002 Dec;26(6):450-60. 

46. Wambach JA, Wegner DJ, Depass K, Heins H, 

Druley TE, Mitra RD, An P, Zhang Q, Nogee LM, 

Cole FS, Hamvas A. // Single ABCA3 mutations 

increase risk for neonatal respiratory distress 

syndrome. Pediatrics. 2012 Dec;130(6):e1575-

82. 

47. Somaschini M, Presi S, Ferrari M, Vergani B, 

Carrera P. // Surfactant proteins gene variants 

in premature newborn infants with severe 

respiratory distress syndrome. J Perinatol. 2018 

Apr;38(4):337-344. 

48. Wert SE, Whitsett JA, Nogee LM. // Genetic 

disorders of surfactant dysfunction. Pediatr 

Dev Pathol. 2009 Jul-Aug;12(4):253-74.  

49. Edwards V, Cutz E, Viero S, Moore AM, Nogee 

L. // Ultrastructure of lamellar bodies in 

congenital surfactant deficiency. Ultrastruct 

Pathol. 2005 Nov-Dec;29(6):503-9.  

50. Bruder E, Hofmeister J, Aslanidis C, Hammer J, 

Bubendorf L, Schmitz G, Rufle A, Bührer C. // 

Ultrastructural and molecular analysis in fatal 

neonatal interstitial pneumonia caused by a 

novel ABCA3 mutation. Mod Pathol. 2007 

Oct;20(10):1009-18.  

51. Citti A, Peca D, Petrini S, Cutrera R, Biban P, 

Haass C, Boldrini R, Danhaive O. // 

Ultrastructural characterization of genetic 

diffuse lung diseases in infants and children: a 

cohort study and review. Ultrastruct Pathol. 

2013 Oct;37(5):356-65. 

52. Bullard JE, Nogee LM. // Heterozygosity for 

ABCA3 mutations modifies the severity of lung 

disease associated with a surfactant protein C 

gene (SFTPC) mutation. Pediatr Res. 2007 

Aug;62(2):176-9. 

53. Litao MK, Hayes D Jr, Chiwane S, Nogee LM, 

Kurland G, Guglani L. 2017 

54. Brasch F, Griese M, Tredano M, Johnen G, Ochs 

M, Rieger C, Mulugeta S, Müller KM, Bahuau M, 

Beers MF. // Interstitial lung disease in a baby 

with a de novo mutation in the SFTPC gene. Eur 

Respir J. 2004 Jul;24(1):30-9. 

55. Litao MK, Hayes D Jr, Chiwane S, Nogee LM, 

Kurland G, Guglani L. // A novel surfactant 

https://doi.org/10.37547/ajbspi/Volume03Issue03-01
https://scholar.google.co.in/scholar?q=
https://www.mendeley.com/search/?page=1&query=


Volume 04 Issue 07-2024 26 

                 

 
 

   
  
 

American Journal Of Biomedical Science & Pharmaceutical Innovation    
(ISSN – 2771-2753) 
VOLUME 04 ISSUE 07 PAGES: 16-27 

OCLC – 1121105677     

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Publisher: Oscar Publishing Services 

Servi 

protein C gene mutation associated with 

progressive respiratory failure in infancy. 

Pediatr Pulmonol. 2017 Jan;52(1):57-68. 

56. Hong D, Dai D, Liu J, Zhang C, Jin T, Shi Y, Jiang 

G, Mei M, Wang L, Qian L. // Clinical and genetic 

spectrum of interstitial lung disease in Chinese 

children associated with surfactant protein C 

mutations. Ital J Pediatr. 2019 Aug 28;45(1):117. 

57. Salerno T, Peca D, Menchini L, Schiavino A, 

Boldrini R, Esposito F, Danhaive O, Cutrera R. 

Surfactant Protein C-associated interstitial lung 

disease; three different phenotypes of the 

same SFTPC mutation. Ital J Pediatr. 2016 Feb 

29;42:23. 

58. Huang L, Wang M, Chen Z, Yan Y, Zhang X, 

Zheng Y, Chen H, Ji W. // I73T mutation in the 

pulmonary surfactant protein C gene 

associated with pediatric interstitial lung 

disease: a case study and the review of related 

literature]. Zhonghua Er Ke Za Zhi. 2014 

Nov;52(11):846-50. Chinese. 

59. Liu J, Chen JH, Wang YQ, Nong GM, Zheng YJ, 

Hao CL. // Genetic variants in the surfactant 

protein C gene 218 site are associated with 

pediatric interstitial lung disease: seven cases 

study]. Zhonghua Er Ke Za Zhi. 2019 Jan 

2;57(1):21-26. Chinese. 

60. Chen JH, Zhao DY, An SH, Zheng YJ, Wang HP, 

Ma HL. // Clinical manifestations of three cases 

of surfactant protein C p. V39L mutation]. 

Zhonghua Er Ke Za Zhi. 2017 Jun 2;55(6):457-

461. Chinese. 

61. Hegde SV, Greenberg B. // Newborn respiratory 

distress: airway abnormalities. Semin 

Ultrasound CT MR. 2015 Apr;36(2):138-45. 

Mirza A, Martinez M, Kilaikode S. 2022 

62. Овсянников Д.Ю., Жесткова М.А., 

Стрельникова В.А., Аверин А.П и др. 

ГЕНЕТИЧЕСКИЕ ДИСФУНКЦИИ СИСТЕМЫ 

СУРФАКТАНТА У ДЕТЕЙ: РЕЗУЛЬТАТЫ 

МНОГОЦЕНТРОВОГО ИССЛЕДОВАНИЯ // 

Доктор.Ру. 2023. №3.  

63. Wu TT, Yu YM, Tang P, Zhuang QD, Zhang Y, Lai 

NY, Ding QL. //Familial interstitial lung disease 

associated with surfactant protein C gene 

mutation in adults: report of two cases and 

literature review]. Zhonghua Jie He He Hu Xi Za 

Zhi. 2022 Jan 12;45(1):53-58. Chinese. 

64. Zhu CM, Cao L, Huang RY, Wang YJ, Zou JZ, 

Yuan XY, Song F, Chen HZ. // Pulmonary 

surfactant protein gene mutation associated 

with pediatric interstitial lung disease: a case 

study and the review of related literature]. 

Zhonghua Er Ke Za Zhi. 2013 Feb;51(2):84-9. 

Chinese. 

65. Schuerman FA, Griese M, Gille JP, Brasch F, 

Noorduyn LA, van Kaam AH. // Surfactant 

protein B deficiency caused by a novel 

mutation involving multiple exons of the SP-B 

gene. Eur J Med Res. 2008 Jun 24;13(6):281-6. 

https://doi.org/10.37547/ajbspi/Volume03Issue03-01
https://scholar.google.co.in/scholar?q=
https://www.mendeley.com/search/?page=1&query=


Volume 04 Issue 07-2024 27 

                 

 
 

   
  
 

American Journal Of Biomedical Science & Pharmaceutical Innovation    
(ISSN – 2771-2753) 
VOLUME 04 ISSUE 07 PAGES: 16-27 

OCLC – 1121105677     

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Publisher: Oscar Publishing Services 

Servi 

66. Л. И. Хамидуллина, К. В. Данилко, Р. М. 

Файзуллина, Т. В. Викторова, В. В. Викторов. 

2012 

67. C Vayssière, L Sentilhes , A Ego , C Bernard , D 

Cambourieu, C Flamant , G Gascoin , A 

Gaudineau , G Grangé , V Houfflin-Debarge , B 

Langer, V Malan, P Marcorelles, J Nizard , F 

Perrotin , L Salomon, M-V Senat, A Serry , V 

Tessier , P Truffert , V Tsatsaris , C Arnaud , B 

Carbonne.// Fetal growth restriction and intra-

uterine growth restriction: guidelines for 

clinical practice from the French College of 

Gynaecologists and Obstetricians Eur J Obstet 

Gynecol Reprod Biol. 2015 Oct:193:10-8. 

68. Xiaoqing Wu, Shuqiong He, Qingmei Shen, Shiyi 

Xu, Danhua Guo , Bin Liang, Xinrui Wang, Hua 

Cao, Hailong Huang, Liangpu Xu. //  Etiologic 

evaluation and pregnancy outcomes of fetal 

growth restriction (FGR) associated with 

structural malformations. Sci Rep. 2024 Apr 

22;14(1):9220.  

69. Yao MY, Zhang WH, Ma WT, Liu QH, Xing LH, 

Zhao GF. // Long non-coding RNA MALAT1 

exacerbates acute respiratory distress 

syndrome by upregulating ICAM-1 expression 

via microRNA-150-5p downregulation. Aging 

(Albany NY). 2020 Apr 21;12(8):6570-6585. 

70. Shen W, Kuang P, Wang B, Zeng Q, Chen C, Lin 

X. // Genetic Polymorphisms of LPCAT1, CHPT1 

and PCYT1B and Risk of Neonatal Respiratory 

Distress Syndrome among a Chinese Han 

Population. Pediatr Neonatol. 2020 

Jun;61(3):318-324. 

71. Salerno T, Peca D, Menchini L, Schiavino A, 

Petreschi F, Occasi F, Cogo P, Danhaive O, 

Cutrera R. // Respiratory insufficiency in a 

newborn with congenital hypothyroidism due 

to a new mutation of TTF-1/NKX2.1 gene. 

Pediatr Pulmonol. 2014 Mar;49(3):E42-4. 

72. Machida O, Sakamoto H, Yamamoto KS, 

Hasegawa Y, Nii S, Okada H, Nishikawa K, 

Sumimoto SI, Nishi E, Okamoto N, Yamamoto T 

2024 

73. Villafuerte B, Natera-de-Benito D, González A, 

Mori MA, Palomares M, Nevado J, García-

Miñaur S, Lapunzina P, González-Granado LI, 

Allende LM, Moreno JC. 2018 

74. Barnett CP, Mencel JJ, Gecz J, Waters W, Kirwin 

SM, Vinette KM, Uppill M, Nicholl J.//  

Choreoathetosis, congenital hypothyroidism 

and neonatal respiratory distress syndrome 

with intact NKX2-1. Am J Med Genet A. 2012 

Dec;158A(12):3168-73. 

75. Peca D, Petrini S, Tzialla C, Boldrini R, Morini F, 

Stronati M, Carnielli VP, Cogo PE, Danhaive O. // 

Altered surfactant homeostasis and recurrent 

respiratory failure secondary to TTF-1 nuclear 

targeting defect. Respir Res. 2011 Aug 

25;12(1):115. 

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https://scholar.google.co.in/scholar?q=
https://www.mendeley.com/search/?page=1&query=

