Early-onset liver disease complicated with acute liver failure in Alstrom syndrome

Quirós-Tejeira, Rubén E.; Vargas, Jorge; Ament, Marvin E.

doi:10.1002/ajmg.1292

Cited by 29 publications

(14 citation statements)

References 12 publications

(16 reference statements)

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“…There is extensive phenotypic variation in the slowly progressive hepatic dysfunction in Alström syndrome, which begins with clinically silent elevation of transaminases, and steatosis [46-48]. The initial presentation is usually steatosis and hepatosplenomegaly followed by fibrotic and inflammatory processes with lymphocytic infiltration in the portal and parenchymal areas.…”

Section: Alström Syndrome Clinical Overviewmentioning

confidence: 99%

Alstrom Syndrome: Genetics and Clinical Overview

Marshall

Maffei²,

Collin³

et al. 2011

226

298

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Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. Symptoms first appear in infancy and progressive development of multi-organ pathology leads to a reduced life expectancy. Variability in age of onset and severity of clinical symptoms, even within families, is likely due to genetic background.Alström syndrome is caused by mutations in ALMS1, a large gene comprised of 23 exons and coding for a protein of 4,169 amino acids. In general, ALMS1 gene defects include insertions, deletions, and nonsense mutations leading to protein truncations and found primarily in exons 8, 10 and 16. Multiple alternate splice forms exist. ALMS1 protein is found in centrosomes, basal bodies, and cytosol of all tissues affected by the disease. The identification of ALMS1 as a ciliary protein explains the range of observed phenotypes and their similarity to those of other ciliopathies such as Bardet-Biedl syndrome.Studies involving murine and cellular models of Alström syndrome have provided insight into the pathogenic mechanisms underlying obesity and type 2 diabetes, and other clinical problems. Ultimately, research into the pathogenesis of Alström syndrome should lead to better management and treatments for individuals, and have potentially important ramifications for other rare ciliopathies, as well as more common causes of obesity and diabetes, and other conditions common in the general population.

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Section: Alström Syndrome Clinical Overviewmentioning

confidence: 99%

Alstrom Syndrome: Genetics and Clinical Overview

Marshall

Maffei²,

Collin³

et al. 2011

226

298

View full text Add to dashboard Cite

show abstract

“…These include Bardet-Biedl and Alströ m syndromes [22,[38][39][40][41][42] and polycystic ovary syndrome [43][44][45]. In the lipodystrophy and lipoatrophy syndromes, which are clinically and genetically heterogeneous, affected individuals typically are thin but get liver disease histologically equivalent to NAFLD.…”

Section: Pediatric Nafld With Genetic/metabolic Diseasementioning

confidence: 99%

Pediatric nonalcoholic fatty liver disease (NAFLD): A “growing” problem?

Roberts

2007

Journal of Hepatology

157

139

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“…Four other patients have been described with AS, and evidence of liver disease was demonstrated during the third decade of life by Awazu in 1997 (1); three patients had cirrhosis and one had steatosis. In 2001, acute liver failure in AS at 8 years of age was reported by Quiros-Tejeira et al (5). In 2008, liver fibrosis with hepatocellular adenoma in AS was demonstrated by Morgan et al (6).…”

Section: Discussionmentioning

confidence: 94%