Straussberg R, Shapiro R, Amir J, Yonash A, Rachmel A, Bisset W M, Varsano I
Department of Pediatrics A, Children's Medical Center of Israel, Patach Tikvah, Israel.
Clin Genet. 1997 Feb;51(2):98-101. doi: 10.1111/j.1399-0004.1997.tb02428.x.
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.
我们报告了5例在出生后最初几天开始出现顽固性腹泻的患者。这些患者来自四个伊拉克犹太裔家庭。三个家庭中父母近亲结婚以及一个家庭中另一同胞复发提示为常染色体隐性遗传。所有患者均为正常妊娠和分娩后出生，出生体重在正常范围内。无畸形特征。3例患者为母乳喂养。腹泻始于出生后第1天至第8天。腹泻为分泌型。粪便中未培养出病原体。对所有患者进行的空肠活检结果从正常到严重的部分绒毛萎缩不等。患者接受了不同的药物治疗方案，但均无效果，所有患者均依赖全胃肠外营养（TPN）。这些发现以及患者相同的种族起源提示这些患者患有相同的先天性顽固性腹泻综合征。在以色列的其他种族群体中未发现类似病例，这提示在伊拉克裔犹太人中该基因频率可能较高。
