III. Congenital chloride diarrhea

J Kere, H Lohi, P Höglund - American Journal of …, 1999 - journals.physiology.org
Congenital chloride diarrhea (CLD) is a recessively inherited … absorption that involves,
specifically, Cl − / HCO 3 − exchange… chloride transporter defective in congenital chloride diarrhea.…

Congenital chloride diarrhea clinical features and management: a systematic review

L Di Meglio, G Castaldo, C Mosca, A Paonessa… - Pediatric …, 2021 - nature.com
Congenital chloride diarrhea (CLD) is a rare autosomal recessive disorder characterized by
watery diarrhea with a high level of fecal Cl − , metabolic alkalosis, and electrolyte alterations…

Long-term clinical outcome in patients with congenital chloride diarrhea

S Hihnala, P Höglund, L Lammi… - Journal of pediatric …, 2006 - journals.lww.com
… gene encodes a chloride transporter defective in congenital chloride diarrhea. Am J
Physiol … in a patient with congenital chloride diarrhea. Am J Hum Genet 1994;55(4):747-52. …

Butyrate as an effective treatment of congenital chloride diarrhea

RB Canani, G Terrin, PIA Cirillo, G Castaldo… - Gastroenterology, 2004 - Elsevier
… In this case report, we report the therapeutic efficacy of butyrate on an 11-year-old patient
affected by congenital chloride diarrhea. Methods : The efficacy of increasing doses of oral …

SLC26A3 mutations in congenital chloride diarrhea

S Mäkelä, J Kere, C Holmberg, P Höglund - Human mutation, 2002 - Wiley Online Library
… alkalosis with diarrhea, but when the primary pathology was understood to involve the
transport of chloride, the disease was renamed as congenital chloride diarrhea [Perheentupa et al.…

Update on SLC26A3 mutations in congenital chloride diarrhea

S Wedenoja, E Pekansaari, P Höglund… - Human …, 2011 - Wiley Online Library
Congenital chloride diarrhea (CLD) is an autosomal recessive disorder with around 250 cases
reported so far. Life-long secretory diarrhea … ) gene disrupting the epithelial Cl − /HCO urn:…

Colonic electrolyte transport in health and in congenital chloride diarrhea.

C Holmberg, J Perheentupa… - The Journal of clinical …, 1975 - Am Soc Clin Investig
… A BSTRACT Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder,
characterized by watery stools with Cl- concentration around 150 meq/ liter. We have perfused …

[HTML][HTML] The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea

S Wedenoja, T Örmälä, UB Berg, SFE Halling… - Kidney international, 2008 - Elsevier
… Here we describe two cases of congenital chloride diarrhea-… in 35 other patients with
congenital chloride diarrhea. The main … This suggests that diarrhea-related sodium chloride and …

Congenital chloride diarrhea: a review of twelve Arabian children

F Elrefae, AF Elhassanien… - Clinical and Experimental …, 2013 - Taylor & Francis
… The aim of our study is to spotlight antenatal and early neonatal diagnosis of infants with
congenital chloride diarrhea which appears not to be an uncommon disorder in Kuwait and …

Congenital chloride diarrhea

EW McReynolds, S Roy… - American Journal of …, 1974 - jamanetwork.com
A 6-month-old black girl had chloride-losing diarrhea. The patient's condition was evaluated
prior to and following treatment with sodium chloride, potassium bicarbonate, a combination …