Hajer Aloulou1, Salma Ben Ameur1, Imen Zouch1, Amira Bouraoui1, Sonia AbdelHak2, Rosa Vargas Poussou3, Thouraya Kammoun1, Mongia Hachicha1.
1Department of Pediatrics, Sfax, Tunisia, 2Laboratory of genetics, Pasteur Institut, Tunis, Tunisia, 3Department of Genetics, European Hospital, George, Pompidou.
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Abstract
Bartter's syndrome is heterogeneous renal tubular disorder affecting sodium, potassium, chloride reabsorption in the thick ascending limb of Henle's loop. It is characterized by urinary potassium loss and metabolic alkalosis. BS type 1 also referred to as antenatal or neonatal BS, is caused by mutations in the SLC12A1 gene encoding bumetanide-sensitive-sodium-potassium-chloride cotransporter (NKCC2). In antenatal BS, abnormality begins in utero with fetal polyuria resulting in polyhydramnios and premature delivery. Another hallmark of this variant is a marked hypercalciuria and as a secondary consequence, the development of nephrocalcinosis and osteopenia. A 45 day old-boy born following a pregnancy complicated by severe polyhydramnios at a gestational age of 29 weeks, presented with fractures of upper limbs, dehydration, persistent hypokalemia, hypochloremic metabolic alkalosis with normal blood pressure, elevated plasma renin activity and nephrocalcinosis. Genetic study showed homozygosity mutations in the SLC12A1 gene.
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