Zobrazeno 1 - 10
of 457
pro vyhledávání: '"congenital chloride diarrhea"'
Publikováno v:
Neonatal Medicine, Vol 30, Iss 3, Pp 75-78 (2023)
Congenital chloride diarrhea (CLD) is a rare autosomal recessive disease caused by mutations in the solute carrier family 26 member 3 (SLC26A3) gene on chromosome 7q31. Affected neonates are vulnerable to dehydration, electrolyte imbalance in the for
Externí odkaz:
https://doaj.org/article/718d6e81c24741fda5f3e61e95012d6d
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-16 (2021)
Abstract Background Infants with neonatal-onset diarrhea present with intractable diarrhea in the first few weeks of life. A monogenic mutation is one of the disease etiologies and the use of next-generation sequencing (NGS) has made it possible to s
Externí odkaz:
https://doaj.org/article/08068b112e3342bd91cfc4fc1bd78a60
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-5 (2020)
Abstract Background Congenital chloride diarrhea (CLD; OMIM 214700) is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene. Without salt substitution, this chronic diarrheal dis
Externí odkaz:
https://doaj.org/article/4ce51d37080146b1ae322711484c82fc
Autor:
Lavinia Di Meglio, Giusi Grimaldi, Francesco Esposito, Monica Gelzo, Maria Valeria Esposito, Giuseppe Castaldo, Roberto Berni Canani
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2022)
ObjectivesOral salt substitutive therapy is pivotal for the survival of patients with congenital chloride diarrhea (CLD), however this therapy is unable to influence the symptoms severity. Butyrate has been proposed to limit diarrhea severity in CLD.
Externí odkaz:
https://doaj.org/article/2fa1ef8969314cbd937724bc84b975f5
Akademický článek
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Autor:
Izabela Cendal, Agnieszka Szafrańska, Tomasz Fuchs, Dariusz Patkowski, Robert Smigiel, Barbara Królak-Olejnik
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Congenital chloride diarrhea (CCD) is caused by a recessive mutation in the SLC26A3 gene and characterized mainly by watery diarrhea, hypochloremia and metabolic alkalosis. Various different mutations in SLC26A3 are responsible for the disease. In th
Externí odkaz:
https://doaj.org/article/91ec21c498204c5a9f844d09047e8110
Publikováno v:
Pediatric Health, Medicine and Therapeutics, Vol Volume 10, Pp 153-156 (2019)
Ehsan Valavi,1 Hazhir Javaherizadeh,2 Mehran Hakimzadeh,3 Parisa Amoori1 1Department of Pediatric Nephrology, Abuzar Children’s Hospital, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran; 2Alimentary Tract Research Center, Ahvaz Jundis
Externí odkaz:
https://doaj.org/article/62298b62562b4361a230d438cefc3180
Autor:
Éva Dávid, Dóra Török, Katalin Farkas, Nikoletta Nagy, Emese Horváth, Zsuzsanna Kiss, György Oroszlán, Márta Balogh, Márta Széll
Publikováno v:
BMC Pediatrics, Vol 19, Iss 1, Pp 1-4 (2019)
Abstract Background Congenital chloride diarrhea (CCD, OMIM 214700) is a rare autosomal recessively inherited condition characterized by watery diarrhea, hypochloremia and metabolic alkalosis. Mutations of the solute carrier family 26, member 3 (SLC2
Externí odkaz:
https://doaj.org/article/c6938e8e1fa34928afb5065d8f5038e5
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Objectives and Study: Congenital chloride diarrhea (CCD) is a rare, autosomal recessive disorder caused by mutations in the SLC26A3 gene encoding a transmembrane chloride/bicarbonate ion exchanger mainly expressed in the apical brush border of the il
Externí odkaz:
https://doaj.org/article/8fc0909462ab46f8bbc363a83d648bcc
Publikováno v:
Childhood Kidney Diseases, Vol 20, Iss 2, Pp 83-87 (2016)
Congenital chloride diarrhea (CLD) is a rare autosomal recessive disease that is difficult to diagnose. CLD requires early treatment to correct electrolyte imbalance and alkalosis and to prevent severe dehydration. Renal injury is clearly associated
Externí odkaz:
https://doaj.org/article/56b737680a7f4982a62105aa75c5da09