Dorfman-Chanarin syndrome

Chilkar, Sujeet; Paikrao, Pradnya; Shah, Ira

doi:10.1007/s12664-012-0212-2

Cited by 2 publications

(2 citation statements)

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“…In this literature revision, it was determined through ultrasound and histological assessment that 86% of the patients had liver involvement 81–95 . In other small‐scale studies, the rate of fatty liver was determined as 64%.…”

Section: Discussionmentioning

confidence: 99%

“…In this literature revision, it was determined through ultrasound and histological assessment that 86% of the patients had liver involvement. [81][82][83][84][85][86][87][88][89][90][91][92][93][94][95] In other small-scale studies, the rate of fatty liver was determined as 64%. In our study, 90% of patients who underwent liver biopsy were found to have steatohepatitis, whereas 10% had cirrhotic findings.…”

Section: Liver Disease Liver Phenotype Genotype/mutationmentioning

confidence: 99%

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Chanarin‐Dorfman Syndrome: A comprehensive review

Çakmak

Bağci

2021

Liver International

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Chanarin-Dorfman syndrome (CDS) is an extremely rare, multisystemic, autosomal recessive, neutral lipid storage disease (NLSD). It was first observed by Jordan in 1953, who identified lipid vacuoles in the cytoplasm of leukocytes from the peripheral blood smear of 2 brothers who suffered from progressive muscular dystrophy. 1 Two decades later, Dorfman in 1974 and Chanarin in 1975 reported for the first time a neutral lipid storage disease characterized by lipid accumulation in the peripheral blood leukocytes, bone marrow granulocyte precursors, liver cells and many other cells in the body. 2,3 To date, approximately 120 cases of CDS have been reported around the world. The syndrome is caused by the mutation of the abhydrolase domain containing 5 (ABHD5) gene, also called the comparative gene identification-58 (CGI-58) gene, located on the 3p21 chromosome. The product of this gene is a member of the large α/β-hydrolase family of proteins with 349 amino acids and a molecular mass of approximately 39 kD that enables the activation of adipose triglyceride lipase (ATGL) which plays and important role in intracellular lipolysis. Mutation of the ABHD5 gene results in the total or partial inactivation of the ATGL enzyme that enables the release of fatty acids (FAs) from the intracellular triacylglycerol (TG) stores of adipose and nonadiposetissues. This leads to insufficient FA mobilization within the cell, which in turn causes the accumulation of intracytoplasmic lipid droplets that contain TG. 4,5 These lipid droplets have been observed in hepatocytes, intestinal mucosa, blood, bone marrow, skin fibroblasts, myocytes, central nervous system cells and many other types of cells. CDS is associated with a multitude of clinical symptoms, the most prominent of which are non-bullous congenital ichthyosiform erythroderma and liver steatosis, whereas others include splenomegaly, myopathy, sensorineural hearing loss, nystagmus, ataxia, cataract, mental retardation and growth retardation. These clinical symptoms tend to vary according to the patients' ethnic origin and the different mutations they have. The diagnosis is based on the presence of ichthyosis and identification of lipid droplets in granulocytes (Jordan's anomaly) in peripheral blood smear. 6,7

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Section: Discussionmentioning

confidence: 99%