Trichohepatoenteric syndrome in a patient with TTC37 mutations – a case report

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00209775%3A_____%2F20%3AN0000007" target="_blank" >RIV/00209775:_____/20:N0000007 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14110/20:00117623 RIV/65269705:_____/20:00073386 RIV/61989592:15110/20:73609964

Result on the web

<a href="https://www.csgh.info/en/article/trichohepatoenteric-syndrome-in-a-patient-with-ttc37-mutations-a-case-report-11181" target="_blank" >https://www.csgh.info/en/article/trichohepatoenteric-syndrome-in-a-patient-with-ttc37-mutations-a-case-report-11181</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.48095/ccgh2020481" target="_blank" >10.48095/ccgh2020481</a>

Result language

angličtina

Original language name

Trichohepatoenteric syndrome in a patient with TTC37 mutations – a case report

Original language description

We report a patient with somatic retardation and woolly hair appearance who suffered from recurring episodes of watery mucous diarrhea, impaired liver functions, and failure to thrive. He manifested with severe infection courses, including hepatitis of unknown origin complicated by liver failure at 4 months, bronchopneumonia at 4 years, and life-threatening sepsis with septic shock at 8 years of age. Esophagogastroduodenoscopy and colonoscopy were performed at 4 years to rule out inflammatory bowel disease (IBD), and only signs of nonspecific colitis were evident. Immunology workup revealed slight reduction in CD4+ naive subsets and impaired T cell response to mitogens. Massive parallel sequencing (also termed next-generation sequencing – NGS) targeting a panel of primary immunodeficiency-related genes was used to examine the patient’s DNA. NGS analysis revealed two heterozygous variants in the TTC37 gene. Nonsense p.Arg1201* and missense p.Leu1505Ser variants in exons 34 and 42, respectively, were evaluated as pathogenic based on in silico predictions, their rare occurrence in the general population, and the fact that both mutations had already been described in patients with trichohepatoenteric syndrome (THES). As clinical features in our patient were in accordance with this diagnosis, we consider our findings as causative. THES could be a life-threatening condition, particularly in children who develop liver disease or severe infection courses. THES can have a similar clinical presentation as does very early-onset inflammatory bowel disease (VEO-IBD) and is often assigned to this group. Although IBD is generally regarded as a polygenic disease, some children with VEO-IBD are known also to have diseases with monogenic etiologies, as in THES. Targeted NGS is an efficient tool for establishing an accurate dia gnosis in VEO-IBD patients.

Czech name

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Czech description

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Type

J_SC - Article in a specialist periodical, which is included in the SCOPUS database

CEP classification

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OECD FORD branch

30102 - Immunology

Project

—

Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2020

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Gastroenterologie a hepatologie

ISSN

1804-7874

e-ISSN

1804-803X

Volume of the periodical

74

Issue of the periodical within the volume

6

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

7

Pages from-to

481-487

UT code for WoS article

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EID of the result in the Scopus database

2-s2.0-85099233645