Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature

Fabre, Alexandre; Bourgeois, P.; Coste, Marie-Edith; Román, C.; Barlogis, Vincent; Badens, Catherine

doi:10.5582/irdr.2017.01040

Cited by 29 publications

(50 citation statements)

References 34 publications

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“…Up to now, the clinical management of THES has generally consisted of the treatment of specific manifestations and the screening of complications such as severe liver disease (Fabre et al., ). It is our hope that specific therapeutic approaches will result from animal model studies and especially from the advances in understanding about the role of environment interactions in the physiopathology of the disease.…”

Section: Discussionmentioning

confidence: 99%

“…Subsequently, the Body Mass Index is also under normal values, at −0.84 ± 1.59 SD, but there is no significant difference between two subgroups. It is rather difficult to link that fact to the special nutritional regimen of patients, as a lot of them include special dietary requirements in their care (Fabre et al., ) ( Z ‐scores were calculated with the help of the https://www.quesgen.com/BMIPedsCalc.php algorithm, based on the Atlanta Center for Disease Control, The USA: https://www.cdc.gov/growthcharts/percentile_data_files.htm, complete data not shown). Due to the small size of the groups, it is also difficult to link these data with parenteral/normal nutrition, or with any other parameter.…”

Section: Growthmentioning

confidence: 99%

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Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum ofTTC37andSKIV2L, clinical analysis and future prospects

et al. 2018

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Tricho-Hepato-Enteric syndrome (THES) is a very rare autosomal recessive syndromic enteropathy caused by mutations of either TTC37 or SKIV2L genes. Very little is known of these two gene products in mammals nor of the pathophysiology of the disease. Since the identification of the genes, we have set up the molecular diagnostic of THES in routine, gathering a large cohort with clinical and molecular data. Here, we report the phenotype and genotype analysis of this cohort together with an extensive literature review of THES cases worldwide, that is, 96 individuals harboring mutations in one gene or the other. We set up locus-specific databases for both genes and reviewed the type of mutation as well as their localization in the proteins. No hot spot is evidenced for any type of mutation. The phenotypic analysis was first made on the whole cohort but is limited due to heterogeneity in clinical descriptions. We then examined the lab diagnostic cohort in detail for clinical manifestations. For the first time, we are able to suggest that patients lacking SKIV2L seem more severely affected than those lacking TTC37, in terms of liver damage and prenatal growth impairment.

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Section: Discussionmentioning

confidence: 99%

Section: Growthmentioning

confidence: 99%

Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum ofTTC37andSKIV2L, clinical analysis and future prospects

et al. 2018

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“…Long-term PN is the only currently available treatment. 9 , 10 Furthermore, there is no previously reported case, to our knowledge, of a child with THE who was subjected to liver transplantation alone or to a combined liver and small bowel transplantation.…”

Section: Discussionmentioning

confidence: 99%

“…In another more recent report, the authors reviewed the literature conducted in May 2017 and found 29 articles and two abstracts that were included describing a total of 80 patients, of which 40 presented with mutations in the TTC37 and 14 cases with mutations of the SKIV2L genes. 10 Moreover, they found that PN was used in the management of 83% of the patients while weaning from PN was possible in 44% of the cases (mean duration = 14.97 months). Immunoglobulins were used in 33 patients, but data on efficacy were reported in 6 patients with a diminution of infection (n = 3) or diarrhea reduction (n = 2).…”

Section: Discussionmentioning

confidence: 99%

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Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case

Xinias

Mavroudi

Mouselimis

et al. 2018

SAGE Open Medical Case Reports

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Trichohepatoenteric syndrome or syndromic diarrhea is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable diarrhea, facial and hair abnormalities, liver dysfunction, immunodeficiency and failure to thrive. It has been associated with mutations in TTC37 and SKIV2L genes, which encode proteins of the SKI complex that contributes to the cytosolic degradation of the messenger RNA by the cell’s exosome. We report a case of a male infant who suffered from typical symptoms and signs of trichohepatoenteric syndrome without immunodeficiency. The patient’s genetic testing showed a very rare mutation in SKIV2L gene’s 25 exons (p.Glu1038 fs*7 (c.3112_3140del)). Even though our patient was provided with total parenteral nutrition from birth, the child’s death in the third year of age highlights the severity of the disease and the poor prognosis of this particular type of genetic predisposition.

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Expanding the clinical spectrum in trichohepatoenteric syndrome

Dorum

Görükmez

2021

American J of Med Genetics Pt A

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Trichohepatoenteric syndrome (THES) is a very rare autosomal recessive genetic disorder, which is characterized by intractable diarrhea during infancy, dysmorphic features, immunodeficiency, and a failure to thrive. There are still significant difficulties for patients and clinicians in terms of the management of THES, even though its molecular basis has been uncovered in the last decade. In this article, we have presented two cases relating to siblings that have been diagnosed with the condition.Concerning one of the patients, we described a novel variation (c.2114 + 5G > A) in the TTC37 gene and a mild clinical course; meanwhile, the other one was clinically diagnosed with THES at 17 years of age, but they had seizures and died suddenly. These cases expand the spectrum of clinical findings in relation to THES. K E Y W O R D S intractable diarrhea, trichohepatoenteric syndrome, TTC37 gene 1 | INTRODUCTION Trichohepatoenteric syndrome (THES) (OMIM #222470) is a rare genetic disorder that is characterized by intractable diarrhea that generally occurs in the neonatal period. Other clinical signs include woolly hair, intrauterine growth restriction, facial dysmorphism, immune deficiency, liver disease, skin abnormalities, cardiac abnormalities, and short stature (Fabre et al., 2017). Stankler et al. (1982) described THES for the first time in two siblings who had intractable diarrhea, intrauterine growth restriction, and facial dysmorphism; later, it was reported by Girault et al. (1994) that immune system

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Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature

Cited by 29 publications

References 34 publications

Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum ofTTC37andSKIV2L, clinical analysis and future prospects

Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum ofTTC37andSKIV2L, clinical analysis and future prospects

Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case

Expanding the clinical spectrum in trichohepatoenteric syndrome

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