Atypical Presentation of Classical Bartter Syndrome as a Case of Chronic Diarrhea and Failure to Thrive

doi:10.4236/ojneph.2013.34038

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Open Journal of Nephrology, 2013, 3, 220-222

Published Online December 2013 (http://www.scirp.org/journal/ojneph)

http://dx.doi.org/10.4236/ojneph.2013.34038

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

Email: [email protected]

Received November 20, 2013; revised December 10, 2013; accepted December 20, 2013

License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

ABSTRACT

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

1. Introduction

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 [3]. 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 [4].

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-

ing well.

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

treatment.

3. Discussion

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. [5] in an Indian series of child-

Open Access OJNeph

A. K. MOHANTY ET AL.

Open Access OJNeph

222

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. [6] 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. [7] 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.

4. Conclusions

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-

ture.

5. Contributors

AK overall designed the study. DP & BM case study and

follow up, BM & PS preparing manuscript.

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