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2014, Number 3

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Rev Cubana Pediatr 2014; 86 (3)

Report of a second congenital chloride diarrhea case in Cuba

Purón BJ, González CF, Fernández OO, Reyes RE, de la Cruz DJR, Forjans PA
Full text How to cite this article

Language: Spanish
References: 10
Page: 376-380
PDF size: 50.27 Kb.


Key words:

congenital chloride diarrhea, watery diarrhea, metabolic alkalosis.

ABSTRACT

Congenital chloride diarrhea is a rare autosomal recessive disorder caused by a defective exchange of chloride and bicarbonate in the ileum and the colon. This article reported the case of one-year old child with pathognomonic characteristics of this disease including prenatal history of polyhydramnios, watery diarrheas since birth, low weight gain, metabolic alkalosis and dehydration. The diagnosis was confirmed on the basis of the high contents of chloride in stools. He is the second case of this disease reported in the Cuban literature.


REFERENCES

  1. Nickavar Azar. Congenital chloride diarrhea: a case report. Iran J Ped. 2007 June;17(2):179-82.

  2. Shantala C, Maiya P, Benakappa N, Sajeev B. Congenital chloride diarrhoea. Indian J Pediatr. 1996;63:254-6.

  3. Al-Hamad N, Al-Eisa A. Renal abnormalities in congenital chloride diarrhea. Saudi Med J. 2004;25(5):651-5. Revista Cubana de Pediatría. 2014;86(3):376-380 http://scielo.sld.cu 380

  4. Contreras M, Rocca A, Benedetti L, Kakisu H, Delgado S, Ruiz J. Clorhidrorrea congénita. Acta Gastroenterol Latinoam. 2005;35:99-103.

  5. Ramírez C, Abreu G, Mulet D, del Campo J, Peña M. Clorhidrorrea congénita: primer reporte en Cuba. Rev Cubana Pediatr. 2009;81(4):1-7.

  6. Holmberg C. Congenital chloride diarrhea. Clin Gastroenterol. 1986 Jul;15(3):583-602.

  7. Al Bishi L, Al Tonissi M. Congenital chloride diarrea: late presentation. Pediatric Health, Medicine and Therapeutics. 2011;2:35-8.

  8. Mac Rae K, Avner E. Bartter/Gitelman syndromes and other inherited tubular transport abnormalities. In: Nelson textbook of Pediatrics. 17th. ed. Philadelphia: Saunders; 2003. p. 1764.

  9. Hoyme E. Patterns of inheritance. En: Nelson textbook of Pediatrics. 17th ed. Philadelphia: Saunders; 2003. p. 378.

  10. Höglund P, Holmberg C, Sherman P, Kere J. Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: implications for early diagnosis and treatment. Gut. 2001;48:724-7.




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C?MO CITAR (Vancouver)

Rev Cubana Pediatr. 2014;86