IllnessIntestinal failure / Diarrhea, differential diagnosis

NGS +

Childhood diarrhoea is a common condition caused, for example, by bacterial or viral infections, allergies or dietary intolerances and rarely has significant long-term consequences. Congenital diarrhoea and enteropathies represent a heterogeneous group of severe inherited diseases that present with devastating chronic diarrhoea in the first months of life and often require supported feeding and comprehensive medical care due to electrolyte disturbances or growth retardation resulting from malabsorption. Diseases with early-onset refractory diarrhoea include exudative diarrhoea associated with very early-onset inflammatory bowel disease (IBD), osmotic or secretory diarrhoea and protein-losing enteropathy. Monogenic diarrhoea is more common among the very early-onset chronic conditions, certainly in children under 6 years of age. Tending to be diagnosed as indeterminate colitis, Crohn's disease and ulcerative colitis are usually excluded first. Osmotic or secretory diarrhoea is mainly caused by impaired absorption and inadequate transport of nutrients or electrolytes and differentiation and polarisation of intestinal cells. Protein-losing diarrhoea is a mucosal disorder caused by IBD, infection, metabolic disease, other genetic abnormalities or primary intestinal lymphangiectasia. Most congenital diarrhoeal diseases and enteropathies are inherited in an autosomal recessive manner. The molecular genetic yield is rarely >20%, depending on the cohort and previous clinical characterisation. Therefore, a negative DNA test result does not exclude the clinical diagnosis.

Reference: https://www.gastrojournal.org/article/S0016-5085(18)30440-2/fulltext

• Alias: Chronischer Durchfall beim Kleinkind
• Alias: Congenital short bowel syndrome
• Alias: Familial Diarrhea
• Alias: Familiäre Diarrhoe
• Alias: Kongenitales Kurzdarmsyndrom
• Alias: [Angeborene] Durchfallerkrankung
• Alias: [Congenital] diarrheal disorder
• Allelic: Cardiac valvular dysplasia, XL (FLNA)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
• Allelic: FG syndrome 2 (FLNA)
• Allelic: Frontometaphyseal dysplasia 1 (FLNA)
• Allelic: Heterotopia, periventricular, 1 (FLNA)
• Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
• Allelic: Melnick-Needles syndrome (FLNA)
• Allelic: Otopalatodigital syndrome, type I (FLNA)
• Allelic: Otopalatodigital syndrome, type II (FLNA)
• Allelic: Terminal osseous dysplasia (FLNA)
• Congenital short bowel syndrome (CLMP)
• Congenital short bowel syndrome (FLNA)
• Diarrhea 1, secretory chloride, congenital (SLC26A3)
• Diarrhea 10, protein-losing enteropathy type (PLVAP)
• Diarrhea 11, malabsorptive, congenital (PERCC1; Int. Control Region deletion)
• Diarrhea 12, with microvillus atrophy (STX3)
• Diarrhea 2, with microvillus atrophy, with/-out cholestasis (MYO5B)
• Diarrhea 3, secretory sodium, congenital, syndromic (SPINT2)
• Diarrhea 4, malabsorptive, congenital (NEUROG3)
• Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
• Diarrhea 6 (GUCY2C)
• Diarrhea 7, protein-losing enteropathy type (DGAT1)
• Diarrhea 8, secretory sodium, congenital (SLC9A3)
• Diarrhea 9 (WNT2B)
• Enterokinase deficiency (TMPRSS15)
• Gastrointestinal defects and immunodeficiency syndrome (TTC7A)
• Hemophagocytic lymphohistiocytosis, familial, 5 (STXBP2)
• Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
• Impaired intestinal peristalsis, haemorrhagic diarrhoea, dysmorphic features [panelapp] (ANO1)
• MEDNIK [MR, Enteropathy, Deaf, periph. Neuropathy, Ichthyosis, Keratoderma] syndrome (WNT2B)
• Meconium ileus (GUCY2C)
• Microvillus inclusion disease (MYO5B)
• Microvillus inclusion disease; diarrheal disorder [MONDO} (STX3)
• Retinal dystrophy + microvillus inclusion disease (STX3)
• Trichohepatoenteric syndrome 1 (TTC37)
• Trichohepatoenteric syndrome 2 (SKIV2L)