Congenital chloride diarrhea clinical features and management: a systematic review
L Di Meglio, G Castaldo, C Mosca, A Paonessa… - Pediatric …, 2021 - nature.com
Introduction Congenital chloride diarrhea (CLD) is a rare autosomal recessive disorder
characterized by watery diarrhea with a high level of fecal Cl−, metabolic alkalosis, and …
characterized by watery diarrhea with a high level of fecal Cl−, metabolic alkalosis, and …
Congenital diarrheal syndromes
AA Elkadri - Clinics in Perinatology, 2020 - perinatology.theclinics.com
Congenital diarrheal disorders are a heterogeneous group of conditions characterized by
watery diarrhea that can potentially lead to massive life-threatening fluid and electrolyte …
watery diarrhea that can potentially lead to massive life-threatening fluid and electrolyte …
Inflammatory bowel disease in patients with congenital chloride diarrhoea
L Norsa, R Berni Canani… - Journal of Crohn's …, 2021 - academic.oup.com
Background Congenital chloride diarrhoea [CLD] is a rare autosomal recessive disease
caused by mutations in the solute family carrier 26 member 3 [SLC26A3] gene. Patients …
caused by mutations in the solute family carrier 26 member 3 [SLC26A3] gene. Patients …
Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation
Q Li, J Wang, R Zang, L Yu, Z Yang, S Sun - BMC pediatrics, 2024 - Springer
Introduction Congenital chloride diarrhoea (CCD) is an autosomal recessive condition that
causes secretory diarrhoea and potentially deadly electrolyte imbalances in infants because …
causes secretory diarrhoea and potentially deadly electrolyte imbalances in infants because …
SNX27 regulates DRA activity and mediates its direct recycling by PDZ-interaction in early endosomes at the apical pole of Caco2 cells
K Bannert, P Berlin, J Reiner… - American Journal …, 2020 - journals.physiology.org
DRA (downregulated in adenoma, SLC26A3) and NHE3 (Na+/H+ exchanger 3, SLC9A3)
together mediate intestinal electroneutral NaCl absorption. Both transporters contain PDZ …
together mediate intestinal electroneutral NaCl absorption. Both transporters contain PDZ …
Mast cell mediated regulation of small intestinal chloride malabsorption in SAMP1/YitFc mouse model of spontaneous chronic Ileitis
MM Rahman, S Afroz, S Arthur, U Sundaram - Cells, 2021 - mdpi.com
In Inflammatory Bowel Disease (IBD), malabsorption of electrolytes (NaCl) results in
diarrhea. Inhibition of coupled NaCl absorption, mediated by the dual operation of Na: H and …
diarrhea. Inhibition of coupled NaCl absorption, mediated by the dual operation of Na: H and …
Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report
Background Congenital chloride diarrhea (CCD, OMIM 214700) is a rare autosomal
recessively inherited condition characterized by watery diarrhea, hypochloremia and …
recessively inherited condition characterized by watery diarrhea, hypochloremia and …
NGS gene panel analysis revealed novel mutations in patients with rare congenital diarrheal disorders
MV Esposito, M Comegna, G Cernera, M Gelzo… - Diagnostics, 2021 - mdpi.com
Congenital diarrheal disorders (CDDs) are early-onset enteropathies generally inherited as
autosomal recessive traits. Most patients with CDDs require rapid diagnosis as they need …
autosomal recessive traits. Most patients with CDDs require rapid diagnosis as they need …
[HTML][HTML] Extremely Increased Chloride Hunger in a Patient with Congenital Chloride Diarrhea: Non-Compliance Fake or New Pathology?
P Heinz-Erian, AR Janecke, S Hofer… - Archives of Clinical …, 2021 - fortunepublish.com
Congenital Chloride Diarrhea (CCD) is a rare autosomalrecessive disorder primarily
characterized by severe watery diarrhea and fecal loss of large amounts of chloride …
characterized by severe watery diarrhea and fecal loss of large amounts of chloride …
Improvement of delayed growth after treatment in child with congenital chloride diarrhea.
J An, JH Lee - Congenital Anomalies, 2020 - search.ebscohost.com
Congenital chloride diarrhea (CLD) is inherited as autosomal recessive trait, which is
caused by single gene mutation. 1 It is caused by a mutation of the solute carrier family 26 …
caused by single gene mutation. 1 It is caused by a mutation of the solute carrier family 26 …