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Congenital intractable diarrhea of infancy in Iraqi Jews
R Straussberg1, R Shapiro, J Amir
1Department of Pediatrics A, Children's Medical Center of Israel, Patach Tikvah, Israel.
Insights
This study identifies a rare congenital intractable diarrhea syndrome in Iraqi Jewish infants. The condition, likely autosomal recessive, causes severe secretory diarrhea unresponsive to treatment, necessitating total parenteral nutrition (TPN).
Area of Science:
- Pediatric Gastroenterology
- Medical Genetics
Background:
- Congenital intractable diarrhea (CID) is a rare group of disorders presenting in early infancy.
- Understanding the genetic and clinical spectrum of CID is crucial for diagnosis and management.
Observation:
- Five infants from four Iraqi Jewish families presented with intractable secretory diarrhea within the first week of life.
- Patients exhibited normal birth parameters and no dysmorphic features, but required total parenteral nutrition (TPN) due to persistent diarrhea.
- Jejunal biopsies showed variable villous atrophy, and stool cultures were negative for pathogens.
Findings:
- Autosomal recessive inheritance is suggested by parental consanguinity and recurrence in siblings.
- The syndrome appears specific to the Iraqi Jewish ethnic group in Israel, indicating a potential founder effect or high gene frequency.
- No effective drug regimens were identified, highlighting the severity and unique nature of this congenital diarrhea.
Implications:
- This research defines a novel syndrome of congenital intractable diarrhea with a specific ethnic predilection.
- Further genetic investigation is warranted to identify the causative gene mutation.
- Early recognition and supportive care, including TPN, are critical for affected infants.
Abstract:
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.