CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease

摘要: Dent’s disease, an X-linked recessive tubular disorder, is characterized by low molecular weight proteinuria (LMWP) and nephrolithiasis associated with nephrocalcinosis hypercalciuria. It due to mutations that inactivate the renal voltage-gated chloride channel ClC-5 [1,2], which encoded a gene (CLCN5) located on chromosome Xp11.22. possible, however, causative were not identified in some patients disease [3–6]. Renal acidification abnormalities have been consistent feature of phenotype, probably being secondary long-standing hypercalciuria nephrocalcinosis. Hypokalaemic metabolic alkalosis, has reported previously disease. Inherited disorders manifest hypokalaemic such as Bartter–Gitelman syndrome or hyperprostaglandin E (also referred antenatal Bartter’s syndrome), are caused malfunction electrolyte transporters ion channels. The linked dysfunction sodium– potassium–chloride co-transporter (NKCC2) [7] outer medullary potassium (ROMK) [8]. cardinal features its onset—with polyhydramnios fetal polyuria, isothenuria When sensorineural deafness autosomal dominant hypocalcaemia, barttin, b subunit channels [9], calcium-sensing receptor CaSR [10]. basolateral (ClC-Kb) [11] (NCCT) [12]. course this usually milder, mimicking chronic use thiazides. ROMK, NKCC2 NCCT uniform clinical presentations, whereas CLCNKB, encoding ClC-Kb, occasionally lead phenotypic overlaps ROMK/ cohort. This study describes first case loss-of-function mutation CLCN5 gene, R347X, Bartter-like alkalosis hyper-reninaemic hyperaldosteronism.