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Long-term follow up of a case of severe congenital chloride diarrhoea

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Abstract

A patient with congenital chloride diarrhoea (CCD) is reported. The diagnosis on the 5th day of life was based on the watery stools with characteristic ionic composition. The neonate presented with abdominal distension necessitating laparotomy on day 1, followed by transverse colostomy on day 3, owing to persistent abdominal swelling. Total parenteral nutrition (from 1 to 3 months) followed by an enteral semielemental diet (from 3 to 5 months) was required to reduce the quantity of stools and to obtain a satisfactory nutritional state. The colostomy was closed at 16 months. Growth, psychomotor development and renal function are normal at 6 years. Criteria for therapeutic evaluation are discussed.

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Abbreviations

CCD:

congenital chloride diarrhoea

References

  1. Buts JP, Goenen M, Claus D, Otte JB, De Meyer R, Tremouroux J (1975) Congenital chloride diarrhea with functional ileus in a premature infant. Helv Paediatr Acta 30:343–348

    Google Scholar 

  2. Clark EB, Vanderhoof JA (1977) Effect of acetazolomide on electrolyte balance in congenital chloridorrhea. J Pediatr 91:148–149

    Google Scholar 

  3. Dusterdieck G, McElwee G (1971) Estimation of angiotensin II concentrations in human plasma by radioimmunoassay. Some applications to physiological and clinical states. Eur J Clin Invest 2: 32–38

    Google Scholar 

  4. Gorden P, Leviltin H (1973) Congenital alkalosis with diarrhea. Ann Intern Med 78:876–882

    Google Scholar 

  5. Hartikainen-Sovri AL, Tuimala R, Koivisto M (1980) Congenital chloride diarrhea: possibility for prenatal diagnosis. Acta Paediatr Scand 69:807–808

    Google Scholar 

  6. Hollander W, Winters RW, Williams FT, Bradley J, Oliver J, Welt L (1957) Defect in the tubular reabsorption of water associated with potassium depletion in rats. Am J Physiol 189:557

    Google Scholar 

  7. Holmberg C, Perheentupa J, Launiala K (1975) Colonic electrolyte transport in health and in congenital chloride diarrhea. J Clin Invest 56:302–310

    Google Scholar 

  8. Holmberg C, Perheentupa J, Pasternack A (1977) The renal lesion in congenital chloride diarrhea. J Pediatr 91:738–743

    Google Scholar 

  9. Holmberg C, Perheentupa J, Launiala K, Hallman N (1977) Congenital chloride diarrhea, clinical analysis of 21 finish patients. Arch Dis Child 52:255–267

    Google Scholar 

  10. Jos J, Valleteau de Moulliac (1978) Bilan des électrolytes dans un cas de diarrhée chlorée congénitale. Arch Fr Pediatr 35:765–769

    Google Scholar 

  11. Launalia K, Perheentupa J, Pasternack A, Hallman N (1967) Familia chloride diarrhea — Chloride malabsorption. Mod Probl Pediatr 11:137–149

    Google Scholar 

  12. McReynolds EW, Roy S, Etteldorf JN, Memphis (1974) Congenital chloride diarrhea. Am J Dis Child 127:566–570

    Google Scholar 

  13. Pearson AJG, Sladen GE, Edmonds CJ, Tavill AS, Wills MR, McIntyre N (1973) The pathophysiology of congenital chloridorrhea. Q J Med 167:453–466

    Google Scholar 

  14. Tucker VL, Wilmore D, Kaiser CJ, Lauer RM (1964) Chronic diarrhea and alkalosis. Pediatrics 601-608

  15. Waite M (1973) Measurement of concentrations of angiotensin I in human blood by radioimmunoassay. Clin Sci Mol Med 45:51–64

    Google Scholar 

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Vermeylen, D., Godart, S., Moretto, M. et al. Long-term follow up of a case of severe congenital chloride diarrhoea. Eur J Pediatr 147, 649–652 (1988). https://doi.org/10.1007/BF00442484

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  • DOI: https://doi.org/10.1007/BF00442484

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