Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome
نویسندگان
چکیده
منابع مشابه
Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea
BACKGROUND Pseudo-Bartter syndrome encompasses a heterogenous group of disorders similar to Bartter syndrome. Sometimes a few status may be nested, as in our case presented here. CASE REPORT An 8-month-old boy was referred to our hospital with of intractable diarrhea, polyuria, persistent hypokalemia, abdominal distension and failure to thrive. He was born in the 34 6/7 gestational week (GW) ...
متن کاملCongenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome
Congenital chloride diarrhea (CCD) is a rare autosomal recessive disease which is characterized by intractable diarrhea of infancy, failure to thrive, high fecal chloride, hypochloremia, hypokalemia, hyponatremia and metabolic alkalosis. In this case report, we present the first female and the second official case of CCD in Iran. A 15-month-old girl referred to our hospital due to failure to th...
متن کاملBartter syndrome and Gitelman syndrome
Conclusions: Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with sypmtoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman synd...
متن کاملPseudo-Bartter syndrome in an infant with congenital chloride diarrhoea.
INTRODUCTION Pseudo-Bartter syndrome encompasses a heterogenous group of disorders similar to Bartter syndrome. We are presenting an infant with pseudo-Bartter syndrome caused by congenital chloride diarrhoea. CASE OUTLINE A male newborn born in the 37th gestational week (GW) to young healthy and non-consanguineous parents. In the 35th GW a polyhydramnios with bowel dilatation was verified by...
متن کاملRho kinase inhibition and vascular protection: support from studies in Bartter and Gitelman syndrome.
Protection: Support From Studies in Bartter and Gitelman Syndrome To the Editor: In a recent article, Wolfrum et al1 have shown that in human cells in culture, inhibition of Rho kinase (RKO) activates Akt pathway, which they contend leads to cardiovascular protection via activation of eNOS. ROK (a downstream effector of RhoA G protein) involvement has been advanced in the pathogenesis of hypert...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2018
ISSN: 1434-5161,1435-232X
DOI: 10.1038/s10038-018-0470-7