Hypotonia an unusual childhood presentation of Bartter syndrome
نویسندگان
چکیده
منابع مشابه
Bartter syndrome – report of an unusual late presentation case and brief review
Bartter syndrome is a rare autosomal recessive condition caused by the inability of the thick ascending limb to reabsorb filtered sodium and chloride. Types I and II, called antenatal Bartter syndrome, are the most severe, and manifest in-utero as polyhydramnios, preterm labour, salt wasting, life-threatening volume depletion, and severe hypokalemic metabolic alkalosis, with a high early mortal...
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Sir, Recent achievements in genetic research have greatly advanced our knowledge of Bartter-like syndromes at the molecular level w1x. Genotype–phenotype correlations have linked the so called ‘antenatal’ Bartter syndrome to mutations in either the bumetanide-sensitive Na-K-2Cl co-transporter or the ROMK channel (gene symbols SLC12A1 and KCNJ1, respectively; the terms Bartter syndrome type 1 an...
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ژورنال
عنوان ژورنال: International Journal of Contemporary Pediatrics
سال: 2017
ISSN: 2349-3291,2349-3283
DOI: 10.18203/2349-3291.ijcp20174766