Antenatal Classical Neonatal Bartter's Syndrome BS:BSND Variant

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Bartter's Syndrome

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BARTTER'S SYNDROME

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Abstract Introduction and Classification of Bartter's Syndrome

Pseudo-bartter's and Gitelman's Syndrome and Management of Bartter's Syndrome

Rahul P. Bhamkar
Department of Pediatrics,
MGM Medical College and Hospital,
Navi Mumbai.

Address for Correspondence: Dr. Rahul P. Bhamkar, Flat No. 9, Nest Building, Sector 1, Kalamboli, Navi Mumbai. India.
Email: brahul_11@sify.com

Antenatal Bartter's Syndrome :

Signs and symptoms of antenatal or neonatal B.S. may be present or identifiable in utero. Antenatally, there is history of unexplained polyhydramnios with premature delivery. Biochemical abnormality of amniotic fluid with normal sodium, potassium and prostaglandin levels with constantly elevated chloride levels have been documented (3).

Phenotypic features like triangular facies characterized by prominent forehead, large eyes, strabismus, protruding ears and drooping mouth have been reported (4). After birth symptoms occur in first week of life in the form of polyuria, lethargy, poor feeding and rapid weight loss. Urine output may increase up to 10ml/kg/day. Hematological investigations show hyponatremia, hypokalemia, hypochloremia with metabolic alkalosis. Polyuria with urine of low specific gravity i.e. hyposthenuria occurs. There is increased urinary loss of sodium, chloride, potassium and prostaglandin.

Hypercalciuria with nephrocalcinosis is found mainly in type I, II and BSND variant of BS. Levels of renin, aldosterone and prostaglandin E2 in blood are high and important in establishing the diagnosis.

In past various mechanisms like juxtaglomerular hyperplasia, insensitivity to angiotensin II, primary hypersecretion of prostaglandins etc. were proposed to explain the pathophysiology of BS. But all these mechanisms have now been overruled. The basic defects in tubular channels as mentioned above causes increased loss of salts in urine, which leads to activation of renin-angiotensin-aldosterone axis leading to hyperaldosteronism and hyperreninemia. The exact mechanism of increased prostaglandin level in blood and urine is still not known but it appears to be secondary to underlying defect in the transport of sodium chloride in thick ascending limb. So the term "Hyperprostaglandin E syndrome" which was previously used for these tubulopathies will be a misnomer, as increased prostaglandin level is a secondary phenomenon. But why these patients with high renin, aldosterone levels have normal blood pressure? The mechanism still remains unexplained whether it is really due to unresponsiveness of blood vessels to angiotensin II or not!

BSND Variant :

BSND variant was originally described in children born to consanguineous couples from Bedouin family of Southern Israel. There were reports of sensorineural deafness and chronic renal insufficiency due to tubulointerstitial fibrosis in these patients. Renal function deterioration was later proved to be inconsistent finding. This variant also presents antenatally with polyhydramnios in mother and premature delivery. The BSND gene responsible for this variant has been mapped on chromosome 1p31 coding for a protein named barttin, which forms the beta subunit of basolateral chloride channel in distal tubule including CICkb. These channels also contribute to endolymph secretion in inner ear. Karl et al have reported a case with digenic mutation in CIC-Ka and CIC-Kb channels presenting as BSND variant. Postnatally they present with polyuria and they have high chances of neonatal infection compared to their degree of prematurity (5). Other features and investigation findings are similar to type I and II antenatal BS.

Classical Bartter's Syndrome :

Classical BS has later age of onset and milder course as compared to antenatal BS. Classical BS presents in childhood with failure to thrive. They also have polyuria, polydipsia, vomiting, constipation, salt craving leading to dehydration. History of polyhydramnios and premature delivery is generally absent. Urinary calcium is either normal or slightly elevated and these patients have very low chances of nephrocalcinosis. The biochemical abnormality is related to a defect in Cl-transport in thick ascending limb of Henle including CIC-Kb channel. But in some patients with classical BS, no abnormalities could be identified.

Next : Pseudobartter's and Gitelman's Syndrome and Management

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