Search results for "Organomegaly"

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AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvement.

2020

Lysosomal storage diseases (LSDs) are a heterogeneous group of inherited disorders caused by loss-of-function mutations in genes encoding for lysosomal enzymes/proteins. The consequence is a progressive accumulation of substrates in these intracellular organelles, resulting in cellular and tissue damage. The overall incidence is about 1/8000 live births, but is likely underestimated. LSDs are chronic progressive multi-systemic disorders, generally presenting with visceromegaly, and involvement of the central nervous system, eyes, the skeleton, and the respiratory and cardiovascular systems. The age at onset and phenotypic expression are highly variable, according to the specific enzymatic d…

AdultHepatosplenomegalyLysosomal acid lipase deficiencyBioinformaticsOrganomegaly03 medical and health sciencesLiver disease0302 clinical medicinemedicineCholesteryl ester storage disease Enzyme replacement therapy Gaucher disease Lysosomal acid lipase Niemann–Pick disease deficiency Substrate reduction therapyHumansSubstrate reduction therapyEnzyme Replacement TherapySocieties MedicalNiemann-Pick DiseasesAcid sphingomyelinase deficiencyGaucher DiseaseHepatologybusiness.industryGastroenterologyWolman DiseaseEnzyme replacement therapymedicine.diseaseLysosomal Storage DiseasesSphingomyelin PhosphodiesteraseItaly030220 oncology & carcinogenesis030211 gastroenterology & hepatologymedicine.symptombusinessNiemann–Pick diseaseLysosomesVisceromegalyDigestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
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Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A…

2006

Laboratory diagnosis of lysosomal storage disorders, especially sphingomyelinase deficiency (Niemann–Pick disease type A/B) and Niemann–Pick disease type C (NPC) can be challenging. We therefore aimed to analyse the feasibility of first-step screening with specific chitotriosidase cut-off values in children ≤ 10 years of age with visceral organomegaly (hepatomegaly, splenomegaly, or hepatosplenomegaly) in whom a storage disorder was suspected. We conducted a retrospective, cross-sectional, referral, single-centre study to assess diagnostic test properties in 106 individuals. Median chitotriosidase activity was 12 655 nmol/h per ml (interquartile range 4693–20982) in Gaucher disease (GD); 78…

medicine.medical_specialtyHepatosplenomegalyGastroenterologySensitivity and SpecificityOrganomegalyCentral nervous system diseaseDiagnosis DifferentialInterquartile rangePredictive Value of TestsInternal medicineGene DuplicationGenotypeGeneticsMedicineGlycogen storage diseaseHumansChildGenetics (clinical)Retrospective StudiesGaucher Diseasebusiness.industryInfantNiemann-Pick Disease Type CNiemann-Pick Disease Type BNiemann-Pick Disease Type Amedicine.diseaseEndocrinologyHexosaminidasesChemistry ClinicalChild Preschoolmedicine.symptomDifferential diagnosisbusinessNiemann–Pick diseaseJournal of inherited metabolic disease
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