Hypotonia an unusual childhood presentation of Bartter syndrome

Choudhary, Dilipkumar; Anand, VK; Sachdev, C. P.; Gulati, Deepika

doi:10.18203/2349-3291.ijcp20174766

Cited by 2 publications

(3 citation statements)

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“…BS is an autosomal disorder, which is related to defect of sodium and chloride absorption from the Henle's loop leading to excessive urinary electrolytes loss (10). Henle's loop, as occurring increased loss of Na + , K + , Cl -, and Ca in the urine of patients obviously (2).…”

Section: Discussionmentioning

confidence: 99%

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A Case Report on Bartter Syndrome as Urinary Tract Stone and Poor Weight Gain in a One-Year Old Child

Jalalodini

Goli

2019

Nephro-Urol Mon

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Introduction: Bartter syndrome (BS) is a rare metabolic disorder causing defect in sodium and chloride absorption in the thick ascending limb of Henle's loop and increased urinary loss of sodium chloride (Na), chloride (Cl), and prostaglandins. Case Presentation: We present the case of a 1-year-old girl with BS presenting with vomiting, poor feeding, and agitation. Physical examination revealed muscle weakness, developmental delay, and failure to thrive. Laboratory investigations revealed hypokalemia, metabolic alkalosis, hyponatremia, and hypokalemia. Urinary investigations revealed raised urinary chloride, sodium, potassium, and calcium levels. Renal ultrasound revealed a renal calculus in the lower calyx of the right kidney with hydronephrosis. Conclusions: The basic defect in BS is the loss of one of the transporters involved in sodium reabsorption in the thick ascending limb on the Henle's loop or apical K channel. BS is characterized by severe hypokalemia, metabolic alkalosis, hyponatremia, hypochloremia, and hyperaldosteronism. In BS, increased urinary loss of sodium, potassium, and chloride is observed.

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Section: Discussionmentioning

confidence: 99%

“…Clinical features of BS include poor feeding, weight loss, generalized weakness, muscle weakness, spasm of muscles, short stature, triangular face, prominent forehead, large eyes, protruding ears, drooping mouth, strabismus, and sensorineural deafness (10,12).…”

Section: Discussionmentioning

confidence: 99%

A Case Report on Bartter Syndrome as Urinary Tract Stone and Poor Weight Gain in a One-Year Old Child

Jalalodini

Goli

2019

Nephro-Urol Mon

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“…Most children present in infancy with complaints of polyuria, polydipsia, vomiting, constipation and failure to thrive while older children present with recurrent episodes of dehydration, muscle weakness and cramps [2].…”

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confidence: 99%

Neonatal Bartter syndrome: A case report from Northern India

Singh

Sharma²,

Agarwal

et al. 2021

Ukr. J. Nephrol. and Dial.

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Abstract. Bartter Syndrome is a rare genetic disorder affecting the renal tubular system causing a decreased absorption of sodium and chloride in the thick ascending limb of the Henle loop. Most children present in infancy with complaints of polyuria, polydipsia, vomiting, constipation and failure to thrive while older children present with recurrent episodes of dehydration, muscle weakness and cramps. The present study aimed to demonstrate a case of Bartter syndrome presenting as acute gastroenteritis.

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Hypotonia an unusual childhood presentation of Bartter syndrome

Abstract: Bartter syndrome is a congenital functional renal anomaly, characterized by hypokalemic metabolic alkalosis with renal salt wasting with normal blood pressure. It presents in infancy and early childhood age group with failure to thrive and episodes of polyuria and dehydration.

Cited by 2 publications

References 5 publications

A Case Report on Bartter Syndrome as Urinary Tract Stone and Poor Weight Gain in a One-Year Old Child

A Case Report on Bartter Syndrome as Urinary Tract Stone and Poor Weight Gain in a One-Year Old Child

Neonatal Bartter syndrome: A case report from Northern India

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