Hasanat Ma

Bartter Syndrome: A Rare Renal Tubulopathy Presenting with Polyuria, Generalized Weakness and Recurrent Tetany in an Adolescent Male

Bartter syndrome is a rare autosomal recessive renal tubulopathy resulting in hypokalemic, hypochloremic metabolic alkalosis with hyperreninemia. It consists of a set of closely related overlapping syndromes having variable presentation. Advances in molecular diagnostics have revealed the underlying mutations in numerous genes that affect the function of ion channels and transporters which normally mediate salt reabsorption in the distal nephron segments. The classic manifestations are childhood onset of fatigue, polyuria, polydipsia, salt craving, vomiting, dehydration, short stature, and failure to thrive. It should be suspected in any young, normotensive individual presenting with persistent hypokalemic alkalosis in the absence of surreptitious diuretic abuse. It requires high index of clinical suspicion for appropriate diagnosis and timely treatment have been shown to reverse the clinical and biochemical abnormalities thereby improve the outcome. Here we report a 19-year-old boy with classical Bartter syndrome that was treated with Potassium supplementation, NSAID, spironolactone and he showed significant improvement on subsequent follow-up.

Laron Syndrome: Siblings with Extreme Short Stature and Very High Growth Hormone

Primary growth hormone resistance or growth hormone insensitivity syndrome (GHIS), also known as Laron syndrome, is a hereditary disease caused by deletions or different types of mutations in the growth hormone receptor gene or by post-receptor defects. This disorder is characterized by a clinical appearance attributable to severe growth hormone deficiency with high levels of circulating growth hormone in contrast to low serum insulin-like growth factor-1 (IGF-1) and low serum insulin-like growth factor binding protein (IGFBP-3)values. It is an autosomal recessive disorder and to date, more than 70 unique growth hormone receptor (GHR) mutations have been identified in more than 250 GHIS patients. We report the case of an 8-year-old boy and his 12-year-old sister born to first cousin parent that presented with severe short stature who had the classic feature of GH deficiency. Investigations revealed high plasma GH levels in both the cases. Subsequently, IGF-1 and IGFBP-3 assay were done and the levels were found to be very low. These reports along with elevated GH level in the context of typical picture of GH deficiency confirmed the diagnosis of GHIS. Genetic testing could not be done because of unavailability in our context. Regrettably specific therapy in the form of recombinant IGF-1 could not be offered as it is not commercially available in our country.