Classic Bartter syndrome: a rare cause of failure to thrive in a child

Classic Bartter Syndrome: A Cause of Severe Hypokalemic Metabolic Alkalosis

“…15 Renal biopsy is not useful in making diagnosis and most commonly shows hyperplasia of juxtaglomerular apparatus. 5,6,11 A definitive diagnosis can be made with genetic mutation analysis such as DNA sequencing test. 11,15…”

“…5,6,11 A definitive diagnosis can be made with genetic mutation analysis such as DNA sequencing test. 11,15…”

“…Classic Bartter syndrome has wide phenotypic variability 3,8,11 and presents as failure to thrive, fatigue, polydipsia, salt carving, dehydration due to polyuria, muscular hypotonia, and developmental delay. 2,[11][12][13] These patients usually have normal to low systemic blood pressure due to secondary hyperaldosteronism. 3,4,6,14 Biochemical evaluation usually shows low serum sodium, potassium, and chloride with severe metabolic alkalosis.…”

Bartter syndrome and growth hormone deficiency: Three siblings with a novel CLCNKB mutation

“…Thus, these studies provided some pathophysiological insights into the mechanisms by which BS is often associated with short stature and failure to thrive. Whenever an appropriate therapeutic management (leading to a good control of salt balance) is provided to BS children, the impact of this disturbance on growth rate is remarkably blunted . Therefore, if the failure to thrive is persisting, other concomitant causes of growth failure must be investigated, including GHD.…”

Physiology and pathophysiology of the renal Na-K-2Cl cotransporter (NKCC2)

“…An inactivating mutation of the gene encoding for the basolateral chloride channel clcnkb is known as Bartter syndrome type 3, and this mutation accounts for the so-called classic Bartter's syndrome (134,149). Type 4 is caused by an inactivating mutation of Barttin (BSND), a regulatory subunit of the clcnkb and clcnka chloride channels (13,38).…”