Congenital Diarrheal Syndromes. Clin Perinatol 2020 Mar;47(1):87-104
Date
02/01/2020Pubmed ID
32000931DOI
10.1016/j.clp.2019.10.010Scopus ID
2-s2.0-85076217713 (requires institutional sign-in at Scopus site) 15 CitationsAbstract
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.
Author List
Elkadri AAAuthor
Abdul Aziz Elkadri MD Associate Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AnimalsCattle
Diagnosis, Differential
Diarrhea, Infantile
Food Hypersensitivity
Genomics
Genotype
Humans
Infant, Newborn
Milk Proteins
Neonatal Screening
Phenotype
Rare Diseases
Syndrome
