INTRODUCTION:
Bartter's syndrome ,originally described by Bartter's and 
colleagues in 1962,represents a set of closely related 
autosomal recessive renal tubular disorder characterised by 
hypokalemia,metabolic alkalosis,nephrocalcinosis,low or 
normal blood pressure and vascular resistence to angiotensin 
II.Histologically,there is hyperplasia of juxtaglomerular cells.

Prevalence : 1 in 10,00,000.

Classication: (on the basis of underlying genetics)

Ÿ Type 1-Antenatal Bartter's syndrome:results from mutation 
in SLC12A1( sodium-chloride-potassium cotrnsporter 
gene)

Ÿ Typr 2-Antenatal/neonatal Bartter's syndrome:results from 
mutations in ROMK(renal outer medullary potassium 
channel) gene

Ÿ Type 3-Classic Bartter's syndrome:Late childhood or 
adolescent onset,caused by mutations of CLCNKB 
(chloride voltage gated channel kb gene)

Ÿ Type 4-Bar t ter ' s  syndrome wi th  sensor ineural 
deafness:results from loss of function mutations in 
BSND(Beta subunit of chloride channels)

Ÿ Type 5-Gitelman syndrome:results from mutations in 
SLC12A3( sodium-chloride cotransporter)

CASE REPORT:
A 19 year old female patient was admitted to Civil Hospital, 
Ahmedabad with complaints of generalised weakness,easy 
fatigability,nausea and lower abdominal pain for last 1 
month.Patient had multiple admissions in last 7-8 months with 
similar complaints of  generalised weakness and 
bodyache,lower abdominal pain,constipation and easy 
fatigability.Old reports(table-1) were suggestive of 
hypokalemia , bilateral multiple renal stones with other 
normal renal and liver function test and haematological 
parameters.For that patient was treated symptomatically with 
medications and D-J stenting for renal stones(removed after 2 
months) and then referred to Civil hospital ,Ahmedabad for 
further evalution of her generalised weakness and fatigability.

Table-1.

After admission to civil hospital ,routine investigations done 
which were suggestive of hypokalemia with normal renal 
function test,liver function test,complete blood counts and usg 
abdomen-pelvis was suggestive of bilateral multiple small 
stones in calyx of both kidney and ureters. ABGA was done for 
further evaluation of persistent hypokalemia and recurrent 
renal stones which was showing metabolic alkalosis with 
compensatory respiratory acidosis(pH-7.72, Po 92 2 -

mmHg,Pco -52mmHg, S.HCO 42 mmol/l,O sat-98%).2 3- 2

So for further evaluation of metabolic alkalosis,hypokalemia 
and renal stones,urinary potassium was done to rule out extra 
renal causes of hypokalemia like vomiting,diarrhea, 
diuretics,steroids use.Other causes of hypokalemia like 
thyroid disorders,starvation,hypomagnesemia were ruled 
out.

24 hour Urinary potassium was 68.7 mmol/day,spot urinary 
chloride was 34.2mEq/l with TTKG >4 conrming the renal 
source of potassium loss.S.aldosteron and S.cortisol were 
normal which ruled out possibility of liddle's syndrome, 
Cushing's syndrome,syndrome of apperent mineralocorticoid 
excess.With above workup salt-losing tubulopathy and 
channelopathy like bartter's syndrome or Gitelman's 
syndrome was suspected.So To differentiate between bartter's 

A RARE CASE OF ADOLESCENT ONSET BARTTER'S SYNDROME

Original Research Paper

Dr. Nilima K. Shah 
Additional Professor, Department Of Medicine, B.J.Medical College, 
Ahmedabad.

  X 35GJRA - GLOBAL JOURNAL FOR RESEARCH ANALYSIS

Medicine

Bartter's syndrome is a group of renal tubular disease characterized by impaired salt reabsorption in 
thick ascending limb of henle's loop and clinically by the association of hypokalemia,metabolic 

alkalosis,hypercalciuria/nephrocalcinosis,low/normal blood pressure,vascular resistance to angiotensin II.Most of the cases 
have been noted in pediatric age group and adult onset cases are rare.Here we report a case of 19 year old female patient with 
adolescent onset of bartter's syndrome who presented with persistent hypokalemia,metabolic alkalosis, normotension, 
nephrocalcinosis.

ABSTRACT

KEYWORDS : Bartter's syndrome,Salt wasting renal tubulopathy,Metabolic 

alkalosis,Hypokalemia,Normotension,Nephrocalcinosis

Dr. Kartikeya 
Parmar 

Assistant Professor, Department Of Medicine, B.J.Medical College, 
Ahmedabad. 

Dr. Suvika Patel* 
Third Year Resident, Department Of Medicine, B.J.Medical College, 
Ahmedabad. *Corresponding Author

VOLUME-8, ISSUE-11, NOVEMBER-2019 • PRINT ISSN No. 2277 - 8160 • DOI : 10.36106/gjra

Dr. Harsh Kachhela 
Third year Resident, Department Of Medicine, B.J.Medical College, 
Ahmedabad.

Dr. Shailesh 
Chauhan 

Third year Resident, Department Of Medicine, B.J.Medical College, 
Ahmedabad.

Hb 9.9 g/dl ANA(IF) Negative

Wbc 10,456 /cmm ANA PROFILE Negative

Platelets 278000/cmm ANTI-CCP 27 u/ml(-ve)

ESR 69 mm/hour RA FACTOR <10 iu/ml(-ve)

CRP 98 mg/l TOTAL PROTIEN 6.37 g/dl

SGPT 14 u/l S.ALBUMIN 3.57 g/dl

S.CREATINE 0.89 mg/dl URINE R/M NAD

S.POTASSIUM 2.9 mEq/l S.SODIUM 144 mEq/l

USG ABDO-
KUB

Left kidney shows stone in middle(5mm) and 
lower(3 mm) calyx with right kidney shows 
presence of stone in middle (4mm)and 
lower(3mm)calyx and mild hydronephrosis 
with stone (7mm)in right ureter just below PUJ.



36 X GJRA - GLOBAL JOURNAL FOR RESEARCH ANALYSIS

syndrome (which is associated with hypercalciuria) and 
Gitelman's syndrome  urinary calcium creatinine ratio and 
serum calcium were  done which was 0.32 and 6.9 mg/dl 
respectively.So clinical diagnosis of bartter's syndrome was 
made as she was presented with laboratory investigations 
suggest ive  o f  pers is tent  hypokalemia,metabol ic 
alkalosis,recurrent renal stones,hypercalciuria and low 
serum calcium level.For conrmation of diagnosis genetic 
s t u d y  w a s  p l a n n e d  t o   n d  o u t  m u t a t i o n s  l i k e 
BSND,CLCNKA,KCNJ1,SLC12A1,SLC12A3,CLCNKB but 
could not be done due to economical issues.

Patient was treated with potassium chloride 20 meq 4 times a 
day ,spironolactone -50 mg twice a day and symptomatic 
treatment was given .The administration of medication led to 
increase in serum potassium to 3.7 to 4.3 meq/l.This 
improvement in serum potassium concentration also led to 
reversal of ECG changes,improvement in patient's muscle 
strength with generalised well-being.

DISCUSSION:
Hypokalemia is a common clinical problem,the cause of 
which can usually be determined from the history(as with 
diuretic use,vomiting or diarrhea.)But in some cases,however, 
the diagnois is not readily apparent.The diagnostic workup of 
patients with hypokalemia is reviewd here.There are two 
major components to diagnostic evaluation:assessment of 
urinary  potassium losses from other causes of hypokalemia 
and assessment of acid-base status,since some causes of 
hypokalemia are associated with metabolic alkalosis or 
metabolic acidosis.

 
The clinical symptoms of Bartter's syndrome are dominated by 
hypokalemia causing generalised weakness,fatigue, 
nausea,constipation,anorexia and proxima muscle weakness 
with cardiac arrythamias in sever cases.

Clinically Bartter's syndrome can be divided in at least two 
groups:one with early(infancy)and other with late onset of 
symptoms.Neonatal Bartter's syndrome characterised by 
intrauterine onset of polyuria,leading to polyhydroamnios 

n d t hbetween 22  and 24  weeks of gestation.In adults 
,fatigue,nausea,proximal weakness,tetany,renal stones are 
most common presenting features.

The primary defect in Bartter's syndrome is an impairment in 
one of the transporters involved in sodium chloride 
reabsorption in the loop of henle.The combination of 
secondary hyoeraldosteronism due to impaired sodium 
chloride reabsorption and volume depletion leads to 
increased distal ow and sodium delivery enhances 

potassium and hydrogen secretion at the secretory sites in the 
connecting tubules and collecting tubules leading to 
metabolic alkalosis and hypokalemia.

The tubular defects in Bartter's syndrome cannot be corrected 
thus treatment must be lifelong and is aimed at minimizing the 
effects of extracellular volume depletion as well as correcting 
the electrolytes abnormalities.Potassium supplementation, 
hypomagnesemia correction,NSAIDS, drugs blocking distal 
sodium-potassium ehchange(spironolactone, eplerenone, 
amiloride),angiotensin inhibitors(ACEI) are cornerstone of the 
treatment.Kidney transplantation has been performed in rare 
patients who developed end-stange renal disease due to 
coexisting renal disease or the effects of chronic volume 
depletion,electrolyte abnormalities,drug related side effects 
and/or nephrocalcinosis.

CONCLUSION:
Bartter's syndrome is rare autosomal recessive genetic 
disorder whose primary pathogenic mechanism is defective 
transepithelial chloride reabsorption in thick ascending limb 
of loop of henle due to defective function of proteins 
responsible for transporting ions to renal cells. As it is rare 
disorder it requires extensive workup for diagnosis including 
genetic study for nonspecic clinical presentation of 
syndrome. The tubular defects of Bartter's syndrome cannot 
be corrected, symptomatic treatment with correction of 
underlying acid-base and electrolyte abnormalities is the 
rule.

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VOLUME-8, ISSUE-11, NOVEMBER-2019 • PRINT ISSN No. 2277 - 8160 • DOI : 10.36106/gjra