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Cholesteryl Ester Storage Disease: An underdiagnosed cause of cirrhosis in adults.
Pant M, Oshima K. Pant M, et al. Ann Diagn Pathol. 2017 Dec;31:66-70. doi: 10.1016/j.anndiagpath.2017.02.005. Epub 2017 Feb 9. Ann Diagn Pathol. 2017. PMID: 28318950 Review.
Given the recent availability of safe and effective enzyme replacement therapy that can alter the natural course of CESD, the pathologists signing out adult and pediatric liver biopsies should be aware of this entity, thus contributing to timely patient management. ...
Given the recent availability of safe and effective enzyme replacement therapy that can alter the natural course of CESD, the patholo …
Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.
Zhang JH, Lin AP, Zhang L, Ruan DD, Gao MZ, Chen Q, Yu HP, Liao LS, Lin XF, Fang ZT, Lin F, Lu SY, Luo JW, Zheng XL, Chen MS. Zhang JH, et al. Dig Dis Sci. 2024 Jun;69(6):2109-2122. doi: 10.1007/s10620-024-08395-9. Epub 2024 Apr 2. Dig Dis Sci. 2024. PMID: 38564148
Whole genome Next-generation sequencing (NGS) was used to screen candidate genes and mutations, Sanger sequencing confirmed predicted mutations, and qPCR detected LIPA mRNA expression. RESULTS: Eight individuals of the pedigree were speculatively thought to have CESD. ...
Whole genome Next-generation sequencing (NGS) was used to screen candidate genes and mutations, Sanger sequencing confirmed predicted …
Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.
Scott SA, Liu B, Nazarenko I, Martis S, Kozlitina J, Yang Y, Ramirez C, Kasai Y, Hyatt T, Peter I, Desnick RJ. Scott SA, et al. Hepatology. 2013 Sep;58(3):958-65. doi: 10.1002/hep.26327. Epub 2013 Jul 29. Hepatology. 2013. PMID: 23424026 Free PMC article.
Additionally, by surveying the available literature, c.894G>A was estimated to account for 60% (95% confidence interval [CI]: 51%-69%) of reported mutations among multiethnic CESD patients. Using this estimate, the predicted prevalence of CESD in the Caucasian and Hispa …
Additionally, by surveying the available literature, c.894G>A was estimated to account for 60% (95% confidence interval [CI]: 51%-69%) of …
Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease.
Du H, Sheriff S, Bezerra J, Leonova T, Grabowski GA. Du H, et al. Mol Genet Metab. 1998 Jun;64(2):126-34. doi: 10.1006/mgme.1998.2707. Mol Genet Metab. 1998. PMID: 9705237 Review.
The deletion in mRNA is due to a G to A transition in the last nucleotide of exon 8 of the hLAL gene, a splice junction mutation (E8SJM) that resulted in exon skipping, and a predicted in-frame deletion of the 24 amino acids. [35S]Met metabolic labeling studies in fibrobla …
The deletion in mRNA is due to a G to A transition in the last nucleotide of exon 8 of the hLAL gene, a splice junction mutation (E8SJM) tha …
Cholesteryl ester storage disease: an easily missed diagnosis in oligosymptomatic children.
Freudenberg F, Bufler P, Ensenauer R, Lohse P, Koletzko S. Freudenberg F, et al. Z Gastroenterol. 2013 Oct;51(10):1184-7. doi: 10.1055/s-0033-1350463. Epub 2013 Oct 11. Z Gastroenterol. 2013. PMID: 24122380
To our knowledge, this is the first pediatric case of genetically and biopsy confirmed CESD without hepatomegaly, suggesting that this diagnosis can be easily missed. It further raises the question about the natural course and the therapy required for this oligosymptomatic …
To our knowledge, this is the first pediatric case of genetically and biopsy confirmed CESD without hepatomegaly, suggesting that this diagn …
Clinical, biochemical and histological analysis of seven patients with cholesteryl ester storage disease.
Tylki-Szymańska A, Rujner J, Lugowska A, Sawnor-Korszyńska D, Woźniewicz B, Czarnowska E. Tylki-Szymańska A, et al. Acta Paediatr Jpn. 1997 Dec;39(6):643-6. doi: 10.1111/j.1442-200x.1997.tb03660.x. Acta Paediatr Jpn. 1997. PMID: 9447750
Deficiency of LAL results in intralysosomal storage of cholesteryl esters and triglycerides. CESD has a chronic and benign course and is characterized by hepatomegaly and mild hypercholesterolemia. ...
Deficiency of LAL results in intralysosomal storage of cholesteryl esters and triglycerides. CESD has a chronic and benign course and …
Cholesteryl Ester Storage Disease: Fatal Outcome without Causal Therapy in a Female Patient with the Preventable Sequelae of Progressive Liver Disease after Many Years of Mild Symptoms.
Canbay A, Müller MN, Philippou S, Gerken G, Tromm A. Canbay A, et al. Am J Case Rep. 2018 May 18;19:577-581. doi: 10.12659/AJCR.907755. Am J Case Rep. 2018. PMID: 29773783 Free PMC article.
Since 2015, a causal treatment with sebelipase alfa, which replaces the missing LAL enzyme, has been approved. We report a fatal course of LAL-D in a female patient. CASE REPORT In 1979, CESD was first diagnosed in a 13-year-old female with marked hepatomegaly. At that tim …
Since 2015, a causal treatment with sebelipase alfa, which replaces the missing LAL enzyme, has been approved. We report a fatal course …
Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.
Aslanidis C, Ries S, Fehringer P, Büchler C, Klima H, Schmitz G. Aslanidis C, et al. Genomics. 1996 Apr 1;33(1):85-93. doi: 10.1006/geno.1996.0162. Genomics. 1996. PMID: 8617513
Cholesteryl ester storage disease (CESD) and Wolman disease are both autosomal recessive disorders associated with reduced activity and genetic defects of lysosomal acid lipase (LAL). We provide evidence that the strikingly more severe course of Wolman disease is caused by …
Cholesteryl ester storage disease (CESD) and Wolman disease are both autosomal recessive disorders associated with reduced activity and gene …
25 results