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Congenital intractable diarrhea of infancy in Iraqi Jews
Author(s) -
Straussberg Rachel,
Shapiro Rivka,
Amir Jacob,
Yonash Anita,
Rachmel Avinoam,
Bisset William M.,
Varsano Itzhak
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02428.x
Subject(s) - diarrhea , consanguinity , medicine , pregnancy , pediatrics , autosomal recessive inheritance , atrophy , villous atrophy , gastroenterology , gene , biology , disease , genetics , coeliac disease
We report on five patients who presented with intractable diarrhea starting during the first days of life. The patients belonged to four families of Iraqi Jewish origin. Autosomal recessive inheritance is suggested by parental consanguinity in three families and recurrence in another sib in one family. The patients were all born after uneventful pregnancy and labor, with birth weight in the normal range. There were no dysmorphic features. Three patients were breast fed. Diarrhea started between the first and eighth day of life. Diarrhea was of the secretory type. No pathogen was cultured from the stool. Jejunal biopsies performed on all patients ranged from normal to severe partial villous atrophy. The patients received different drug regimens with no beneficial effect and all are dependent on TPN. These findings and the common ethnic origin of the patients suggest that these patients have the same syndrome of congenital intractable diarrhea. No similar cases are known in other ethnic groups in Israel, suggesting a possibility of high gene frequency among the Jews of Iraqi origin.