Hypochloremic metabolic alkalosis and failure to thrive: answer
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Uwe Querfeld & Silvia Lechner & Andreas R. Janecke
- چاپ و سال / کشور: 2011
Description
CLD is a rare autosomal recessive disease occurring mainly in people in Arabian countries, Finland, and Poland [1–3]. It is characterized by unremitting watery diarrhea with high fecal losses of chloride, failure to thrive, and renal impairment in older children and adults if the disease is left untreated. Prenatal symptoms include polyhydramnios and dilated intestinal loops; birth is often premature, and postnatal mortality rates are high due to severe dehydration and electrolyte imbalances. The disease is caused by a defective anion exchange protein, an epithelial chloride/ bicarbonate (Cl-/HCO3 -) exchanger located in the brush border of the ileum and colon, resulting in defective intestinal chloride absorption and secretion of HCO3 -, with a secondary defect in sodium/hydrogen (Na+/H+) transport, altogether leading to intestinal losses of both sodium and water, hypochloremia, hyponatremia, and metabolic alkalosis.
Pediatr Nephrol (2011) 26:895–896 DOI 10.1007/s00467-010-1667-y Received: 16 August 2010 / Revised: 10 September 2010 / Accepted: 16 September 2010 / Published online: 28 October 2010
