Cyanosis revealing hepatopulmonary syndrome in a child with dyskeratosis congenita

Renoux, M; Mazars, N.; Tichit, R.; Counil, F.

doi:10.1002/ppul.21128

Cited by 9 publications

(13 citation statements)

References 12 publications

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“…Th e isolated reports of children with dyskeratosis congenita in whom dyspnea was a prominent presenting symptom of liver disease suggest a specifi c association of HPS with telomere dysfunction. 13,[26][27][28][29][30][31][32] Although our experience suggests HPS is a common presentation of liver disease in patients with short telomere syndrome, it is possible that there are alternate presentations of hepatic pathology, including overt cryptogenic cirrhosis. Regardless, recognizing the short telomere syndrome diagnosis is important for management, especially in the transplant setting where these patients have increased rates of acute complications related to myelosuppressive and other medications.…”

Section: Discussionmentioning

confidence: 82%

Hepatopulmonary Syndrome Is a Frequent Cause of Dyspnea in the Short Telomere Disorders

Gorgy

Jonassaint²,

Stanley

et al. 2015

Chest

107

111

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Section: Discussionmentioning

confidence: 82%

Hepatopulmonary Syndrome Is a Frequent Cause of Dyspnea in the Short Telomere Disorders

Gorgy

Jonassaint²,

Stanley

et al. 2015

Chest

107

111

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“…While HPS is a well‐recognized, albeit rare, complication of any form of liver disease, it appears to be relatively common in DC patients with either cirrhosis or NRH . This association of HPS and short telomere syndromes may suggest some mechanistic overlap.…”

Section: Discussionmentioning

confidence: 99%

“…Finally, a child with a mutation in TINF2 gene who underwent a BMT aged 4 years developed severe HPS by the age of 5. No liver biopsy was performed, and the patient was listed for liver transplantation at the time of publication …”

Section: Discussionmentioning

confidence: 99%

Successful liver transplantation in short telomere syndromes without bone marrow failure due to DKC1 mutation

Bleesing

McCormick²,

Squires

et al. 2020

Pediatric Transplantation

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Short telomere syndromes are a heterogenous spectrum of disorders leading to premature cellular aging. These may involve bone marrow failure, adult‐onset idiopathic pulmonary fibrosis, and liver disease, and classical entities such as dyskeratosis congenita. We report a patient who presented with common variable immunodeficiency at 3 years of age and autoimmune cytopenias at 8 years of age. He was found to have short telomeres, and genetic testing confirmed a hemizygous mutation NM_001363.4: c.‐142C > G in DKC1 gene. He subsequently developed cirrhosis with severe portal hypertension and hepatopulmonary syndrome, prompting liver transplantation at 11 years of age. He remains well 10 years after transplant with no progression of bone marrow failure or progressive lung disease. In conclusion, short telomere syndromes should be considered as a potential cause of pediatric liver disease of unknown etiology, and in severe cases, isolated liver transplantation may be both appropriate and successful.

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“…Most information comes from single case reports or small case series. Non-cirrhotic portal hypertension (104–106) and hepatopulmonary syndrome (107) have been reported in individuals with DC. Similar to IPF, liver disease may be the presenting clinical manifestation of a telomere biology disorder.…”

Section: Liver Diseasementioning

confidence: 99%

The genetics and clinical manifestations of telomere biology disorders

Savage

Bertuch

2010

Genetics in Medicine

212

206

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Telomere biology disorders are a complex set of illnesses defined by the presence of very short telomeres. Individuals with classic dyskeratosis congenita have the most severe phenotype, characterized by the triad of nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. More significantly, these individuals are at very high risk of bone marrow failure, cancer, and pulmonary fibrosis. A mutation in one of six different telomere biology genes can be identified in 50–60% of these individuals. DKC1, TERC, TERT, NOP10 and NHP2 encode components of telomerase or a telomerase-associated factor, and TINF2, a telomeric protein. Progressively shorter telomeres are inherited from generation to generation in autosomal dominant dyskeratosis congenita, resulting in disease anticipation. Up to 10% of individuals with apparently acquired aplastic anemia or idiopathic pulmonary fibrosis also have short telomeres and mutations in TERC or TERT. Similar findings have been seen in individuals with liver fibrosis or acute myelogenous leukemia. This report reviews basic aspects of telomere biology and telomere length measurement, and the clinical and genetic features of those disorders that constitute our current understanding of the spectrum of illness caused by defects in telomere biology. We also suggest a grouping schema for the telomere disorders.

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Cyanosis revealing hepatopulmonary syndrome in a child with dyskeratosis congenita

Cited by 9 publications

References 12 publications

Hepatopulmonary Syndrome Is a Frequent Cause of Dyspnea in the Short Telomere Disorders

Hepatopulmonary Syndrome Is a Frequent Cause of Dyspnea in the Short Telomere Disorders

Successful liver transplantation in short telomere syndromes without bone marrow failure due to DKC1 mutation

The genetics and clinical manifestations of telomere biology disorders

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