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2018 ; 154
(8
): 2045-2059.e6
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Advances in Evaluation of Chronic Diarrhea in Infants
#MMPMID29654747
Thiagarajah JR
; Kamin DS
; Acra S
; Goldsmith JD
; Roland JT
; Lencer WI
; Muise AM
; Goldenring JR
; Avitzur Y
; Martín MG
Gastroenterology
2018[Jun]; 154
(8
): 2045-2059.e6
PMID29654747
show ga
Diarrhea is common in infants (children less than 2 years of age), usually acute,
and, if chronic, commonly caused by allergies and occasionally by infectious
agents. Congenital diarrheas and enteropathies (CODEs) are rare causes of
devastating chronic diarrhea in infants. Evaluation of CODEs is a lengthy process
and infrequently leads to a clear diagnosis. However, genomic analyses and the
development of model systems have increased our understanding of CODE
pathogenesis. With these advances, a new diagnostic approach is needed. We
propose a revised approach to determine causes of diarrhea in infants, including
CODEs, based on stool analysis, histologic features, responses to dietary
modifications, and genetic tests. After exclusion of common causes of diarrhea in
infants, the evaluation proceeds through analyses of stool characteristics
(watery, fatty, or bloody) and histologic features, such as the villus to crypt
ratio in intestinal biopsies. Infants with CODEs resulting from defects in
digestion, absorption, transport of nutrients and electrolytes, or
enteroendocrine cell development or function have normal villi to crypt ratios;
defects in enterocyte structure or immune-mediated conditions result in an
abnormal villus to crypt ratios and morphology. Whole-exome and genome sequencing
in the early stages of evaluation can reduce the time required for a definitive
diagnosis of CODEs, or lead to identification of new variants associated with
these enteropathies. The functional effects of gene mutations can be analyzed in
model systems such as enteroids or induced pluripotent stem cells and are
facilitated by recent advances in gene editing procedures. Characterization and
investigation of new CODE disorders will improve management of patients and
advance our understanding of epithelial cells and other cells in the intestinal
mucosa.
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