




































Art of Medicine           Volume-1 

International Medical Scientific Journal       Issue-2 

10.5281/zenodo.5547926  

156 

    



Art of Medicine           Volume-1 

International Medical Scientific Journal       Issue-2 

10.5281/zenodo.5547926  

157 

 

Art of Medicine International Medical Scientific journal 

 

Founder and Publisher Pascual Izquierdo-Egea 

Published science may 2021 year. Issued Quarterly.  

Internet address: http://artofmedicineimsj.us 

E-mail: info@artofmedicineimsj.us 
11931 Barlow Pl Philadelphia, PA 19116, USA +1 (929) 266-0862 

 

 
  



Art of Medicine           Volume-1 

International Medical Scientific Journal       Issue-2 

10.5281/zenodo.5547926  

158 

 

GENEALOGICAL CHARACTERISTICS OF PATIENTS WITH CKD AT 

THE LEVEL OF PRIMARY HEALTH CARE  

Daminova K.M., Sabirov M.A. 

Tashkent Pediatric Medical Institute, 

Republican Specialized Scientific and Practical Medical Center for Nephrology 

and Kidney Transplantation, Uzbekistan, Tashkent 

Abstract: The main task of the genealogical method is to study the nature of the 

distribution of hereditary traits in the family. Genealogical analysis of pedigrees 

serves as the basis for medical and genetic counseling, that is, resolving the issue of 

the risk of having patients in a family burdened with hereditary diseases.  

Keywords: Genealogical analysis, Transplantation, CKD, patients  

 

Introduction. The most important method of preventing severe genetically 

determined diseases is medical and genetic counseling. Currently, clinical genetics 

uses various methods of obtaining information to identify patterns inherent in 

hereditary diseases. In clinical therapy, genealogical, mathematical-statistical and 

other methods of genetic analysis are often used. The main task of the genealogical 

method is to study the nature of the distribution of hereditary traits in the family. 

Genealogical analysis of pedigrees serves as the basis for medical and genetic 

counseling, that is, resolving the issue of the risk of having patients in a family 

burdened with hereditary diseases. When compiling pedigrees, special symbols are 

used. First of all, the so-called "legend" is drawn up, the initial collection of the 

family history is carried out. After drawing up the pedigree, a genealogical analysis is 

carried out. 

Early diagnosis of chronic kidney disease (CKD) can help to reduce the 

progression of the disease, improve the clinical condition of patients and improve the 

prognosis of the course of the disease, reduce the number of patients with end-stage 

disease, reduce disability rates and reduce mortality. Based on the foregoing, the goal 



Art of Medicine           Volume-1 

International Medical Scientific Journal       Issue-2 

10.5281/zenodo.5547926  

159 

of our study was to study the role of genealogical analysis in patients with CKD as a 

method of prevention and early diagnosis of progression at the level of primary health 

care. 

Materials and research methods. There were 217 CKD patients under observation 

in the primary health care unit, the average age of which was 46.17 ± 0.63 years, 

mainly of Uzbek nationality. The control group consisted of 20 healthy people of 

Uzbek nationality of the same age without signs of CKD. 

After drawing up the legend of 217 families, a pedigree was compiled and a 

genealogical analysis was carried out. In order to identify the burden of CKD, the 

data obtained were compared with the results of the analysis of the pedigrees of 

individuals (n = 20) of a healthy population. The genealogical method was used to 

examine 893 relatives of the 1st degree of relationship (parents, siblings) of patients 

with CKD for the presence of renal pathology. A detailed pedigree was compiled, 

which included information about diseases in 2-3 generations of the family. Genetic 

material was collected from both parental lines by cross-examination of both parents, 

sometimes grandparents. A total of 1761 people were analyzed in the model 

population.   

Results and its discussion. The data obtained were compared with the 

generalized family response of 20 practically healthy people, in the model population 

of which 172 people were analyzed, of which the incidence of renal pathology was 

2.13%. Comparative analysis of the generalized family portrait of CKD patients with 

a generalized family portrait of a population of practically healthy people revealed a 

more frequent lesion of renal pathology in relatives with CKD (11.07 %). In families 

of probands, renal pathology in generations in relation to the total number of patients 

with each concentration is III - 7.49%; II - 11.06%; I - 17.43%. The burden in the 

population of practically healthy people was observed significantly less: III - 0%; II - 

0.15%; I- 0%. 

It turned out that relatives of the 1st degree of kinship 130 (14.56 ± 2.50%) 

suffer from renal pathology more often, which in relation to the total number of 



Art of Medicine           Volume-1 

International Medical Scientific Journal       Issue-2 

10.5281/zenodo.5547926  

160 

patients with this concentration is 7.38%. At the same time, the following distribution 

was observed among groups: in group 1 (n = 224) - in 27 people, which amounted to 

12.05 ± 0.69%, of which 16 men (59.26 ± 0.57%), 11 women (40.74 ± 0.41%); 

Group 2 (n = 219) - 28 (12.78 ± 0.75%), of which 19 men (67.86 ± 0.68%), 9 women 

(32.14 ± 0.38%); Group 3 (n = 239) - 36 (15.06 ± 0.81%), of which 23 men (63.89 ± 

0.62%), 13 women (36.11 ± 0.50%); Group 4 (n = 211) - 39 (18.48 ± 0.76%), of 

which 22 men (54.41 ± 0.64%), 17 women (43.59 ± 0.51%). Hereditary burden of 

renal pathology was observed more often on the father's side in 46 (10.60 ± 1.50%) 

than on the mother's side 19 (4.38 ± 1.04%) (Table 1). Among the 1st degree relatives 

of grandmothers (n = 434) with renal pathology, there were 29 (6.68 ± 1.22%) of 

them on the father's side 18 (62.07±0.93%), on the mother's side 11 (37,93 ± 0.73%) . 

                                                                                          Table 1. 

The incidence of CKD in the pedigrees of CKD patients. 

Study group 
Prevalence of renal disease 

in relatives of patients 

All relatives n = 

1761 

Total 
195(11,07±3,14%) 

Men 
116(59,48±2,46%) 

Women 
79(40,51±1,91%) 

Mothers n = 217 20(9,22±0,98%) 

Fathers n = 217 28(12,90±1.13%) 

Grannies n = 434 

Total 29(6,68±1,22%) 

From the mother's side 11(37,93±0,73%) 

From the father's side 18(62,07±0,94%) 

Grandfathers n = 

434 

Total 36(8,29±1,29%) 

From the mother's side 8(22,22±0,62%) 

From the father's side 29(77,78±1,13%) 

Sibs n = 459 

Total 80(17,43±1,98%) 

Men 51(63,75±1,67) 

Women 29(36,25±1,15) 

Relatives of the 1st 

degree of kinship n 

= 893 

Total 130(14,56±2,50%) 

Men 80(61,54±2,08%) 

Women 50(38,46±1,49%) 

 

Let us consider their distribution into groups: in group 1 (n = 54) - in 2 people, which 

amounted to 1.85 ± 0.19%, of them on the father's side 1 (50 ± 0.14%), on the 



Art of Medicine           Volume-1 

International Medical Scientific Journal       Issue-2 

10.5281/zenodo.5547926  

161 

mother's side - 1 (50 ± 0.14%); Group 2 (n = 105) - 5 (4.71 ± 0.30%), of which on the 

father's side 3 (60 ± 0.23%), on the mother's side - 2 (40 ± 0.19%); Group 3 (n = 116) 

- 8 (6.90 ± 0.35%), of which 6 on the father's side (75 ± 0.31%), on the mother's side 

- 2 (25 ± 0.18%); Group 4 (n = 104) - 14 (13.46 ± 0.53%), of which 8 on the father's 

side (57.14 ± 0.36%), on the mother's side - 6 (42.86 ± 0.32 %). There were 36 

grandfathers (n = 434) with renal pathology (8.29 ± 1.29%), 28 of them on the 

father's side (77.78 ± 1.13%), on the mother's side 8 (22.22 ± 0.62 %). Let us 

consider their distribution into groups: in group 1 (n = 54) - in 4 people, which 

amounted to 3.70 ± 0.26%, of which all were not observed on the part of the father on 

the part of the mother; Group 2 (n = 105) - 7 (6.60 ± 0.34%), of which 6 on the 

father's side (85.71 ± 0.32%), on the mother's side - 1 (14.29 ± 0.14 %); Group 3 (n = 

116) - 10 (8.62 ± 0.38%), of which 8 on the father's side (80 ± 0.35%), on the 

mother's side - 2 (20 ± 0.18%); Group 4 (n = 104) - 15 (14.42 ± 0.50%), of which 10 

on the father's side (66.67 ± 0.40%), on the mother's side - 5 (33.33 ± 0.30 %). In a 

genealogical study, 459 siblings were studied, of which renal pathology was noted in 

80, which amounted to 17.49 ± 1.98%. At the same time, 51 of them were men 

(63.75 ± 1.67%), and 29 women (36.25 ± 1.15%). When examined by groups, the 

following picture was observed: in group 1 (n = 116) - in 19 people, which amounted 

to 16.38 ± 0.59%, of which 11 men (57.89 ± 0.53%), women - 8 (42.11 ± 0.36%); 

Group 2 (n = 113) - 20 (17.70 ± 0.66%), of which 14 men (70 ± 0.56%), 6 women 

(30 ± 0.32%); Group 3 (n = 123) - 20 (16.26 ± 0.58%), of which 14 men (70 ± 

0.47%), 6 women (30 ± 0.31%); Group 4, (n = 107) - 21 (19.63 ± 0.60%), including 

12 men (57.15 ± 0.51%), women - 9 (42.85 ± 0.43%). 

For illustration, we give an example: pedigree of the patient L.F., 53 years old; 

Diagnosis: basic Ischemic heart disease voltage angina, FC1. GD 2, AG 2, H 3; 

Competed - chronic glomerulonephritis, mixed form, diabet mellitinus 2 type, severe 

current, in the decompensation stage; Complication - CKD 3Ast. Diabetic 

encephalopathy, diabetic nephropathy. (Fig.1) From the pedigree it can be seen that 

the patient has a hereditary burden on the part of the patient, the patient has a 



Art of Medicine           Volume-1 

International Medical Scientific Journal       Issue-2 

10.5281/zenodo.5547926  

162 

hereditary burden on the part of the father, whose grandfather suffered from renal 

pathology, on the maternal side - no morbidity was detected. 

                

Fig. 1. Fragment of L.F.'s pedigree, 53 years old. 

 Note:            - a patient with CKD.  

 

 The more frequent lesion of CKD in the relatives of the proband than in the 

relatives of healthy people indicates a significant role of genetic factors in its 

occurrence. 

The results of our study indicate a significant prevalence of CKD in families of 

probands, but with a predominant lesion of relatives of the first degree of 

relationship. The analysis of the pedigree confirms the absence of a monogenously 

inherited disease as a simple recessive or dominant inheritance. Along with this, the 

wide spread of renal pathology in the population suggests that only a predisposition 

to the development of CKD is inherited. A decrease in the incidence of CKD in 

relatives with a distance from the degree of relationship from the proband may 

indicate the multifactorial nature of the disease. Such diseases are called 

multifactorial or polygenic, since their occurrence is due to the action of a whole 

complex of genes and the influence of the external environment. 

Output. The results of the study showed that CKD can be considered as having 

a hereditary predisposition, which brings it closer to polygenic diseases. Taking this 



Art of Medicine           Volume-1 

International Medical Scientific Journal       Issue-2 

10.5281/zenodo.5547926  

163 

into account, the use of methods of clinical and genetic examination of patients in 

primary health care should be more widely recommended, since knowledge of the 

family background greatly facilitates the early diagnosis and prevention of disease 

progression. Moreover, the hereditary burden was more on the paternal side. At the 

same time, nephropathy was more often registered in the relatives of the proband of 

the I-II degree of kinship in comparison with other relatives. A decrease in the 

frequency of renal pathology in relatives with a distance from the degree of 

relationship from the proband may indicate the multifactorial nature of the disease. 

The risk of developing the disease was higher in cases when the father or mother of 

the proband suffered from nephropathy. 

Thus, CKD can be considered as having a hereditary predisposition, which 

brings it closer to polygenic diseases. The polygenicity hypothesis explains well why 

in families with a large number of affected members, CKD is difficult, becomes 

protracted, and often progresses to the terminal stage. Taking this into account, the 

use of methods of clinical and genetic examination of patients should be more widely 

recommended, since knowledge of the family background greatly facilitates the 

prognosis of individual cases of the disease within the family. 

Moreover, it is more accessible precisely in the primary health care setting 

from family doctors. 

  



Art of Medicine           Volume-1 

International Medical Scientific Journal       Issue-2 

10.5281/zenodo.5547926  

164 

References: 

1. Abdulloev S.M., Gulov M.K. Clinical and epidemiological features and risk factors 

for the development of chronic kidney disease in the Republic of Tajikistan // 

Healthcare of Tajikistan. - 2019. - No. 2. - S. 5-13. 

2. Akhmedova N.Sh. Features of screening of renal function in an outpatient setting // 

Medicus. - 2019. - No. 2 (26). - S. 17-21. 

3. Veltischev Yu.E., Ignatova M.S. Preventive and preventive nephrology (genetic 

and ecopathogenic risk factors for the development of nephropathy): A guide for 

doctors. - M., 1996. - with. 61 

4. Ignatova M.S. The role of genetic research in the development of nephrology // 

Therapeutic archives. - M., 2003. - No. 6. - P.66-72. 

5. Podzolkov V.I., Bragina A.E. Chronic kidney disease as a multidisciplinary 

problem of modern medicine // Therapeutic archive. - 2018. - T. 90, No. 6. - P.121-

129. 

6. Bisi-Onyemaechi AI, Okafor HU, Ughasoro MD. Profile of chronic kidney disease 

modifiable risk factors in a rural community of south east Nigeria. // BMC Public 

Health. 2018 Jul 27; 18 (1): 922. 

7. Connaughton DM, Kennedy C, Shril S, Mann N, Murray SL, Williams PA, Conlon 

E, Nakayama M, van der Ven AT, Ityel H, Kause F, Kolvenbach CM, Dai R, Vivante 

A, Braun DA, Schneider R, Kitzler TM, Moloney B, Moran CP, Smyth JS, Kennedy 

A, Benson K, Stapleton C, Denton M, Magee C, O'Seaghdha CM, Plant WD, Griffin 

MD, Awan A, Sweeney C, Mane SM, Lifton RP, Griffin B, Leavey S, Casserly L, de 

Freitas DG, Holian J, Dorman A, Doyle B, Lavin PJ, Little MA, Conlon PJ, 

Hildebrandt F. Monogenic causes of chronic kidney disease in adults. Kidney Int. 

2019 Apr; 95 (4): 914-928. doi: 10.1016 / j.kint.2018.10.031. Epub 2019 Feb 14. 

PMID: 30773290; PMCID: PMC6431580. 

8. Gaitonde DY, Cook DL, Rivera IM. Chronic Kidney Disease: Detection and 

Evaluation. // Am Fam Physician. 2017 Dec 15; 96 (12): 776-783. 



Art of Medicine           Volume-1 

International Medical Scientific Journal       Issue-2 

10.5281/zenodo.5547926  

165 

9. Groopman EE, Povysil G, Goldstein DB, Gharavi AG. Rare genetic causes of 

complex kidney and urological diseases. Nat Rev Nephrol. 2020 Nov; 16 (11): 641-

656. doi: 10.1038 / s41581-020-0325-2. Epub 2020 Aug 17. PMID: 32807983; 

PMCID: PMC7772719. 

10. Hwang, Ji-Yun et al. "Family history of chronic renal failure is associated with 

malnutrition in Korean hemodialysis patients." Nutrition research and practice vol. 

3.3 (2009): 247-52. doi: 10.4162 / nrp.2009.3.3.247 

11. McClellan WM, Satko SG, Gladstone E, Krisher JO, Narva AS, Freedman BI. 

Individuals with a family history of ESRD are a high-risk population for CKD: 

implications for targeted surveillance and intervention activities. Am J Kidney Dis. 

2009 Mar; 53 (3 Suppl 3): S100-6. doi: 10.1053 / j.ajkd.2008.07.059. PMID: 

19231753. 

12. Malik S, Syed Z, Naz F, Rehman N, Rauf A, Ali R. Risk Factors Of Chronic 

Kidney Disease Leading To Dialysis In Patients Presenting At Ayub Teaching 

Hospital Abbottabad. // J Ayub Med Coll Abbottabad. 2019 Oct-Dec; 31 (Suppl 1) 

(4): p 672-673. 

 

 


