Open Journal of Nephrology, 2013, 3, 220-222
Published Online December 2013 (http://www.scirp.org/journal/ojneph)
Open Access OJNeph
Atypical Presentation of Classical Ba rtter Syndro m e as a
Case of Chronic Diarrhea and Failure to Thrive*
Anil Kumar Mohanty, Deepti Damayanty Pradhan, Bijay Kumar Meher, Pradeep Sivraj
Department of Paediatrics, Sardar Vallavbhai Patel Post Graduate Institute of Paediatrics (SCB Medical College), Cuttack, India
Received November 20, 2013; revised December 10, 2013; accepted December 20, 2013
Copyright © 2013 Anil Kumar Mohanty et al. This is an open access article distributed under the Creative Commons Attribution
License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
The classical Bartter syndrome is an uncommon tubular disorder of autosomal recessive inheritance, characterized by
early childhood onset of polyuria, polydipsia, vomiting, dehydration, constipation and salt craving habit. The long-term
outlook for patients with Bartter syndrome is not certain. If not properly treated, it may lead to failure to thrive and
growth retardation. We herein report a case of 18-month-old girl child who presented chronic diarrhea and failure to
thrive and then was diagnosed as a case of classical Bartter syndrome. She was successfully treated with potassium sup-
plementation and ibuprofen therapy.
Keywords: Bartter Syndrome; Chronic Diarrhea; Ibuprofen Therapy
Bartter Syndrome first described in 1960 but, over the
years several phenotypic and genotypic variants of
original description of Bartter syndrome have been iden-
tified [1,2]. The classical Bartter syndrome (BS) is char-
acterized by early childhood onset with polyuria, poly-
dipsia, vomiting, constipation, salt craving, severe dehy-
dration, failure to thrive and growth retardation . It is
an uncommon tubular disorder, characterized by meta-
bolic alkalosis, hyponatremia, hypokalemia, hypochlo-
remia, with hyper-reninemia and hyperaldosteronemia,
and normal or low blood pressure associated with in-
creased loss of sodium, potassium, calcium and chloride
in the urine .
2. Case Report
An 18-month-old female child born out of non-consan-
guineous marriage presented with history of vomiting,
poor feeding, on and off low grade fever, loose motion
and weight loss for 3 months. Vomiting was projectile,
non-bilious, and 6 - 8 times per day. The loose motion
was watery sometimes mucoid 6 - 8 times daily and was
continuing for last 3 months and was hospitalized in local
hospital twice for dehydration but loose motion did not
relieved by treatment. There was no history of decrease
in urination. This child was 4th order, term normal vagi-
nal delivery, birth weight being 2800 gm with uneventful
perinatal period. Baby was on exclusive breast fed up to
6 months of age and thereafter was on home based cereal
diet. Developmental milestones were normal till about 15
months of age then unable to stand and walk and started
crawling. In the sibling history, 1st male child died at 4
months and 2nd female child died at 6 months due to un-
known reasons, 3rd female child was 5 years old and do-
On examination, at admission, the patient was cachec-
tic, afebrile, lethargic, severely dehydrated, having ta-
chycardia, tachypnea, hypotension, weight 5.5 kg, (pre-
vious documented weight at 6 months was 6.5 kg and at
1 year was 8 kg.) without stunting, head circumference
45 cm, MAC-10 cm with US/LS ratio of 1.4. (Figure 1)
She was pale, without having lymphadenopathy, jaundice,
cyanosis, clubbing or edema with systemic examinations
being normal. Clinical diagnosis at admission was chro-
nic diarrhea with failure to thrive.
On investigation, microcytic hypochromic anemia
with normal erythrocyte sedimentation rate (ESR) and
normoglycemia, without any features of infection (total
leucocyte counts, C-reactive protein, urine microscopy
including culture were normal). Stool examination re-
vealed no red blood cells, pus cell, parasites, fat globules
and normal level of reducing sugars. Serum albumin was
3 gm/dL. Renal function test revealed normal serum-
*Funding: none; Conflicting interest: none.
A. K. MOHANTY ET AL. 221
Figure 1. 18-month-old child w ith failure to thrive and note
the irritability of the child.
urea, creatinine with hyponatremia (118 mEq/L), hypo-
kalemia (2.9 mEq/L), hypochloremia (85 mEq/L). ABG
revealed metabolic alkalosis with pH 7.771; bicarbonate
26 mEq/L. Spot urinary sodium was 184 mEq/L, potas-
sium 14 mEq/L, calcium 12.6 mEq/L, chloride-112
mEq/L. Serum tissue transglutaminase level was normal.
Ultrasonogram of abdomen was normal. Bartter syn-
drome was suspected in the view of metabolic alkalosis
with high urinary excretion of chloride, hyponatremia,
hypokalemia and hypochloremia and then blood sample
was sent for serum renin and aldosterone.
The child was initially managed with intravenous flu-
ids followed by oral rehydration solution (ORS) and F-75
diet. Serum aldosterone and serum renin were found to
be raised i.e. 551.57 pg/ml (normal 25 - 315 pg/ml) and
87.6 uIU/ml (normal upright-4.4 to-46.1 uIU/ml, su-
pine-2.8- to 39.9 uIU/ml) respectively. Later on child
was started on F-100 diet, potassium supplementation
and Ibuprofen therapy (30 mg/kg/day). With this treat-
ment, child improved symptomatically (vomiting and
stool frequency was reduced, her appetite improved) and
she gained 600 gram during the hospital stay. Repeat
Serum electrolytes showed normal sodium (137 mEq/L),
low normal potassium (3.1 mEq/L), and low normal Cal-
cium (0.9 mEq/L).
During follow up after 4 month there was no diarrhea,
weight was increased to 7.7 kg, height 75 cm and serum
electrolyte was normal except for low normal potassium
level (sodium 139 mEq/L, potassium 3.36 mEq/L, Cal-
cium 1.0 mEq/L). At 10 months follow up, the weight
was 9.5 kg, height 82 cm (Figure 2) and serum electro-
lytes were normal.
Figure 2. Same child during follow up after 10 months of
Bartter syndrome is rare autosomal recessive renal tubu-
lar disorders characterized by hypokalemia, hypochlore-
mia, metabolic alkalosis, and hyperreninemia with nor-
mal blood pressure. The underlying renal abnormality
results in excessive urinary losses of sodium, chloride,
and potassium. The occurrence varies from country to
country. Incidence of our country is not known. In Costa
Rica, the frequency of neonatal Bartter syndrome is ap-
proximately 1.2 cases per 100,000 live births but is high-
er if all preterm births are considered. Bartter syndrome
has traditionally been classified into 3 main clinical
variants: neonatal (or antenatal) Bartter syndrome, clas-
sical Bartter syndrome, and Gitelman syndrome. Abnor-
malities of classical Bartter syndrome are all suggestive
of a defect related to Cl− transport in the medullary thick
ascending loop of Henle and distal convoluted tubule
(DCT). Failure to reabsorb chloride results in a failure to
reabsorb sodium and leads to excessive sodium and chlo-
ride (salt) delivery to the distal tubules, leading to exces-
sive salt and water loss from the body and activation of
renin-angiotensin aldosterone system (RAAS).
Our case presented at 18 months of age with severe
dehydration and failure to thrive. We initially treated as a
case of diarrhea; child improved symptomatically and
again went in for severe dehydration. But the urine out-
put was not impaired even in severe dehydration. Blood
and urine investigations revealed increased loss of so-
dium, potassium, chloride and calcium. After then, serum
renin and aldosterone was found high and treated in line
of Bartter syndrome, child improved with our treatment.
K. Sampatkumar et al.  in an Indian series of child-
Open Access OJNeph
A. K. MOHANTY ET AL.
Open Access OJNeph
hood Bartter syndrome had found the mean age of pres-
entation at 6.5 ± 4.9 months with features of vomiting,
FTT, polyuria, dehydration, some with fever, irritability,
respiratory difficulty, alkalosis, hypokalemia, hypoch-
loremia, hyponatremia. However in their series no diar-
rhea was reported.
In another case report by P Samayam et al.  a 5year
old child had presented with history of recurrent vomit-
ing, generalized weakness, FTT, dehydration, pallor
which was diagnosed to be Bartter syndrome, and treated
with Potassium supplements & ibuprofen along with ap-
propriate dietary advice & improved on follow up. How-
ever no diarrhea was associated.
P Saravan kumar et al.  reported a case of neonatal
Bartter syndrome which presented at age of 2 months 10
days with diarrhea, vomiting, abdominal distention and
FTT since 20 days of life. But diarrhea was controlled
with treatment and hypokalemia persisted, so Bartter sy-
ndrome was suspected and diagnosed by investigation.
However in our case the diarrhea persisted and did not
respond to treatment. But diarrhea stopped with treat-
ment of Bartter syndrome in form of potassium supple-
ments and ibuprofen therapy.
Bartter syndrome should be suspected in any case of Vo-
miting and FTT. Also some cases of diarrhea and FTT
with normal urination should be strongly suspected.
What is alre a d y known?
FTT and persistent vomiting cases should be investi-
gated for Bartter syndrome.
What the study adds?
FTT and chronic diarrhea cases should also be inves-
tigated for BS.
Limitation of the study: We could not do genetic ana-
lysis of the child. More cases should be studied in fu-
AK overall designed the study. DP & BM case study and
follow up, BM & PS preparing manuscript.
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