IBD‐Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome

Busoni, Verónica; Lemale, Julie; Dubern, B.; Frangi, Fernando; Bourgeois, P.; Orsi, Marina; Badens, Catherine; Fabre, Alexandre

doi:10.1097/mpg.0000000000001218

Cited by 14 publications

(11 citation statements)

References 10 publications

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“…A detailed account is given in the following paragraphs. (4,23,27). In 10 cases (4,23) antibiotics had no effect and only in one case (27) lead to a temporary reduction in diarrhea.…”

Section: Clinical Datamentioning

confidence: 97%

“…Steroids were administered to 17 patients (4,17,23,26,27,30,(32)(33)(34). No effect was reported in 11 patients and in 5 patients only a partial amelioration was noted.…”

Section: Steroidsmentioning

confidence: 99%

“…In one patient (33) there were no details and it was before HSCT. It should be noted that the patients with partial effect presented with some aspect of IBD-like SD/THE (17,26,27,32). In some cases steroids were given in combination with immunosuppressant drugs.…”

Section: Steroidsmentioning

confidence: 99%

“…Seven drugs were used for a combined total of 24 times in 13 patients (4,17,26,27,30,32,33). Thus, some patients were given multiple drugs, either sequentially or at the same time.…”

Section: Immunosuppressant Drugsmentioning

confidence: 99%

“…Thus, some patients were given multiple drugs, either sequentially or at the same time. Summing up: 5 ASA was used four times with no effect in three patients (17,27) and one case of partial amelioration in combination with steroids (27). Azathioprine was used 5 times, with no effect in 4 patients (4,17,26) and possibly a partial amelioration in one (26).…”

Section: Immunosuppressant Drugsmentioning

confidence: 99%

See 4 more Smart Citations

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

Fabre

Bourgeois

Coste

et al. 2017

IRDR

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“…A detailed account is given in the following paragraphs. (4,23,27). In 10 cases (4,23) antibiotics had no effect and only in one case (27) lead to a temporary reduction in diarrhea.…”

Section: Clinical Datamentioning

confidence: 97%

“…Steroids were administered to 17 patients (4,17,23,26,27,30,(32)(33)(34). No effect was reported in 11 patients and in 5 patients only a partial amelioration was noted.…”

Section: Steroidsmentioning

confidence: 99%

Section: Steroidsmentioning

confidence: 99%

“…Seven drugs were used for a combined total of 24 times in 13 patients (4,17,26,27,30,32,33). Thus, some patients were given multiple drugs, either sequentially or at the same time.…”

Section: Immunosuppressant Drugsmentioning

confidence: 99%

Section: Immunosuppressant Drugsmentioning

confidence: 99%

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

Fabre

Bourgeois

Coste

et al. 2017

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A new mutation in the C‐terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho‐hepato‐enteric syndrome in seven patients from two families

Fabre

Petit

Hansen

et al. 2018

American J of Med Genetics Pt A

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Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, hair abnormalities, intrauterine growth restriction (IUGR), facial dysmorphism, immune dysfunction, and liver and skin abnormalities. SD/THE is caused by mutations in TTC37 or SKIV2L, two genes encoding components of the human SKI complex. To date, approximately 50 SD/THE patients have been described with a wide spectrum of mutations, and only one recurrent mutation has been identified in independent families. We present a detailed description of seven patients of Turkish origin with the same new mutation in TTC37: c.4572 G>A p.(Trp1524X). All seven patients were homozygous for this mutation and presented the typical clinical features of SD/THE, but with a milder presentation than usual. All seven patients were alive at the last follow-up. Four out of seven patients had no IUGR, and four patients never required parenteral nutrition. All patients presented a better growth rate than previously described in patients with SD/THE, with 4/7 above the 3rd percentile. The mutation is localized only forty amino acids from the end of TTC37, and as TTC37 is longer than the yeast SKI3, it is possible that a truncated protein is expressed and plays a reduced role in the SKI complex.

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Long term outcomes in children with trichohepatoenteric syndrome

Lee,

Bremner,

Hartley

et al. 2023

American J of Med Genetics Pt A

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Trichohepatoenteric syndrome (THES) is a rare autosomal recessive disorder caused by mutations in either TTC37 or SKIV2L, usually leading to congenital diarrhea as part of a multisystem disease. Here, we report on the natural history of the disease for the largest UK cohort of patients with THES from 1996 to 2020. We systematically reviewed the clinical records and pathological specimens of patients diagnosed with THES managed in a single tertiary pediatric gastroenterology unit. Between 1996 and 2020, 13 patients (7 female and 6 male) were diagnosed with THES either by mutation analysis or by clinical phenotype. Two patients died from complications of infection. All patients received parenteral nutrition (PN) of which six patients were weaned off PN. All patients had gastrointestinal tract inflammation on endoscopy. Almost half of the cohort were diagnosed with monogenic inflammatory bowel disease (IBD) by the age of 11 years, confirmed by endoscopic and histological findings. Protracted diarrhea causing intestinal failure improves with time in all patients with THES, but monogenic IBD develops in later childhood that is refractory to conventional IBD treatments. Respiratory issues contribute to significant morbidity and mortality, and good respiratory care is crucial to prevent comorbidity.

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IBD‐Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome

Abstract: SD/THE can have a similar presentation as VEOIBD, often as pancolitis. IBD treatments appear to have little efficacy for SD/THE, suggesting a different pathogenesis for the IBD-like features in SD/THE compared with classical IBD.

Cited by 14 publications

References 10 publications

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

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

A new mutation in the C‐terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho‐hepato‐enteric syndrome in seven patients from two families

Long term outcomes in children with trichohepatoenteric syndrome

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