Recent Progress in Congenital Diarrheal Disorders

Abstract

Congenital diarrheal disorders (CDD) are a group of rare enteropathies related to specific genetic defects. Infants with these disorders have chronic diarrhea, frequently requiring parenteral nutrition support. Etiologies and prognoses are variable. We propose a new classification of CDD into four groups, taking into account the specific etiology and genetic defect: 1) defects in digestion, absorption, and transport of nutrients and electrolytes; 2) disorders of enterocyte differentiation and polarization; 3) defects of enteroendocrine cell differentiation; and 4) dysregulation of the intestinal immune response. The present review focuses on the recent advances made in understanding the pathophysiology of CDD that could potentially improve the clinical approach to these conditions.

Diagnosis of Microvillous Inclusion Disease: A Case Report and Literature Review with Significance for Oman

“…1,3 CDD includes a large number of conditions. Canani et al 1,3 suggested that CDD could be classified into 4 groups (Fig. 4).…”

“…3 MVID is one of the CDD according to this classification. 1,3 No prevalence data are available. Almost half of 24 patients with MVID in one report were from consanguineous families from the Mediterranean area.…”

“…Polyhydramnios is reported in rare isolated cases. 4,12 It causes severe and intractable secretory diarrhea (150-300 ml/kg/day) that usually starts shortly after birth and persists despite total bowel rest, 1,2,4,8,13 resulting in severe dehydration and profound metabolic acidosis. 2,8-10 A late onset form (3-4 months of life) with a better outcome is described.…”

“…1,2 Infants affected usually present with severe diarrhea within a few hours, days or months of life leading to life-threatening dehydration and metabolic acidosis that requires PN. 2,3 CDDs are challenging conditions because of their severity and the broad differential diagnosis.…”

Congenital Microvillous Atrophy, Report of Two Consecutive Siblings with Complete Histologic, Immunohistochemical and Detailed Electron Microscopic Studies, First Report from Iran

“…This inheritance of MVD appears to be autosomal recessive, based on cases occurring in siblings and high incidence of consanguinity [3]. Molecular studies demonstrate mutation of the MYO5B that encoded for myosin 5b has a role in pathogenesis of the MVD [4]. Diagnosis is often delayed because of difficulties in taking a small bowl biopsy specimen in the neonatal period.…”