Congenital Diarrheal Syndromes

• Autores: Abdul Aziz Elkadri
• Localización: Clinics in Perinatology, ISSN 0095-5108, Vol. 47, Nº. 1, 2020 (Ejemplar dedicado a: Undiagnosed and Rare Diseases), págs. 87-104
• Idioma: inglés
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• Resumen

  • Congenital diarrheal disorders are heterogeneous conditions characterized by diarrhea with onset in the first years of life. They range from simple temporary conditions, such as cow’s milk protein intolerance to irreversible complications, such as microvillous inclusion disease with significant morbidity and mortality. Advances in genomic medicine have improved our understanding of these disorders, leading to an ever-increasing list of identified causative genes. The diagnostic approach to these conditions consists of establishing the presence of diarrhea by detailed review of the history, followed by characterizing the composition of the diarrhea, the response to fasting, and with further specialized testing.