Overview
Syndromic congenital sodium diarrhea, also known as tricho-hepato-enteric syndrome (THE), is a rare autosomal recessive disorder characterized by intractable diarrhea, woolly hair, and immunodeficiency features, primarily linked to mutations in the TTC37 and SKIV2L genes involved in RNA surveillance and decay mechanisms 12.Diagnosis
Clinical Presentation: Intractable diarrhea, woolly hair, recurrent infections, and potential liver complications (cirrhosis, esophagogastric varices) 1.
Genetic Testing: Sequencing of TTC37 and SKIV2L genes to identify mutations 12.
Immunologic Assessment: Evaluate immunoglobulin levels, lymphocyte subsets, proliferation, superoxide production, and IL-10 signaling function 1.Management
Supportive Care: Aggressive fluid and electrolyte management to address dehydration and electrolyte imbalances 1.
Nutritional Support: Parenteral nutrition may be necessary due to malabsorption 1.
Immunoglobulin Replacement: Consider for patients with low immunoglobulin levels to manage recurrent infections 1.Special Populations
Pediatrics: Early diagnosis and intervention are crucial due to the severe nature of symptoms in neonates and infants 1.Key Recommendations
Perform genetic testing for mutations in TTC37 and SKIV2L genes in patients presenting with syndromic diarrhea and woolly hair 12 (Evidence: Strong).
Conduct comprehensive immunologic assessments including immunoglobulin levels and lymphocyte function in diagnosed cases 1 (Evidence: Moderate).
Implement supportive care measures such as fluid resuscitation and nutritional support tailored to the severity of malabsorption 1 (Evidence: Expert opinion).References
1 Lee WI, Huang JL, Chen CC, Lin JL, Wu RC, Jaing TH et al.. Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency. Medicine 2016. link
2 Fabre A, Charroux B, Martinez-Vinson C, Roquelaure B, Odul E, Sayar E et al.. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. American journal of human genetics 2012. link