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Summary
CONGENITAL CHLORIDE DIARRHEA
DIARRHEA, CONGENITAL CHLORIDE, CLD, DARROW-GAMBLE DISEASE
214700
OMIM = Online Medalian Inheritance of Men
53689
7q22-q31.1
  • butyrate
  • high fluid intake
  • omeprazole
  • potassium chloride
  • sodium chloride
  • spironolactone
rare
1:5500 (Saudi Arabia) 1:30000 (Finland)
autosomal recessive
mutation in the SLC26A3 gene, missense mutations in GUCY2C
common metabolic disorder in Saudi children
symptoms
abdominal distension
dehydration
diarrhea
failure to thrive
growth retardation
hyperaldosteronism
ileus
jaundice
metabolic alkalosis
onset, fetus
onset, newborn
polyhydramnion (maternal)
laboratory finding
Chloride increasedstool
Chloride 97.00110.00decreasedserum
Sodium 134.00146.00decreasedserum
Potassium 3.505.50decreasedserum
Aldosterone0.000.00 increasedplasma
Literature
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Thomas GHBeaudet ALDisorders of glycoprotein degradation and structure: alpha-mannosidosis, beta-mannosidosis, fucosidosis, sialidosis, aspartylglucosminuria and carbohydrate- deficient glycoprotein syndromeThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202529-25611995
Pueschel SMet al.Infantile sialic acid storage disease associated with renal diseasePediatr Neurol40207-2121988
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Danahue LRet al.Megencephaly: a new mouse mutation on chromosome 6 that causes hypertrophy of the brainMamm Genome70871-8761996
Humbertclaude Vet al.Is hyperprolinemia type I actually a benign trait? Report of a case with severe neurologic involvement and vigabatrin intoleranceJ Child Neurol168622-6232001