Literature DB >> 2651131

Congenital chloride diarrhoea in Kuwaiti children.

M M Lubani1, K I Doudin, D C Sharda, A A Shaltout, T S al-Shab, Y K Abdul Al, M A Said, M M Salhi, S A Ahmed.   

Abstract

Congenital chloride diarrhoea was diagnosed in 16 Kuwaiti children over a 7 year period (1980-1986) with an estimated incidence of 7.6 per 100,000 live births. The mean age at diagnosis was 3.2 months (range 1 week to 5 months). There were 9 boys and 7 girls with a mean age of 3 years 10 months (range 10 months to 7 years). All children had a shortened gestational period, abdominal distension and chronic diarrhoea. The serum electrolytes in all patients prior to treatment showed hyponatraemia, hypokalaemia, hypochloraemia and metabolic alkalosis. The diagnosis was confirmed by a stool chloride content that exceeded the sum of faecal sodium and potassium. Fifteen patients survived and showed catch-up growth with adequate replacement therapy and 1 died with renal failure.

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Year:  1989        PMID: 2651131     DOI: 10.1007/bf00444128

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  26 in total

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Journal:  Prenat Diagn       Date:  1984 Nov-Dec       Impact factor: 3.050

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Journal:  Arch Dis Child       Date:  1980-01       Impact factor: 3.791

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  8 in total

Review 1.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

2.  Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium.

Authors:  P Höglund; P Sistonen; R Norio; C Holmberg; A Dimberg; K H Gustavson; A de la Chapelle; J Kere
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

Review 3.  Disease gene mapping in isolated human populations: the example of Finland.

Authors:  A de la Chapelle
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

4.  Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics.

Authors:  Jeana Hong; Jeong Kee Seo; Jae Sung Ko; Hae Il Cheong; Jung-Hwan Choi; Jae Hee Lee; Jeong Wan Seo
Journal:  Eur J Pediatr       Date:  2012-12-30       Impact factor: 3.183

5.  The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator.

Authors:  J Kere; P Sistonen; C Holmberg; A de la Chapelle
Journal:  Proc Natl Acad Sci U S A       Date:  1993-11-15       Impact factor: 11.205

Review 6.  Autosomal recessive disorders among Arabs: an overview from Kuwait.

Authors:  A S Teebi
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

7.  Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome.

Authors:  Hossein Saneian; Emad Bahraminia
Journal:  J Res Med Sci       Date:  2013-09       Impact factor: 1.852

8.  Congenital chloride diarrhea: a review of twelve Arabian children.

Authors:  Fawaz Elrefae; Ahmed Farag Elhassanien; Hesham Abdel-Aziz Alghiaty
Journal:  Clin Exp Gastroenterol       Date:  2013-06-05
  8 in total

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