Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience

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dc.contributor.authorCanda, Ebru
dc.contributor.authorYazici, Havva
dc.contributor.authorEr, Esra
dc.contributor.authorUcar, Sema Kalkan
dc.contributor.authorOnay, Huseyin
dc.contributor.authorSozmen, Eser
dc.contributor.authorÖzkınay, Ferda
dc.contributor.authorCoker, Mahmut
dc.date.accessioned2019-10-27T10:42:03Z
dc.date.available2019-10-27T10:42:03Z
dc.date.issued2018
dc.departmentEge Üniversitesien_US
dc.description.abstractAim: Niemann-Pick disease (NPD) is a lysosomal storage disease caused by an insufficient activity of acid sphingomyelinase (ASM) resulting in the accumulation of sphingomyelin. Type A is an infantile neurovisceral fatal form characterized by hepatosplenomegaly and rapidly progressive neurological deterioration, while the Type B non-neuronopathic disease presents visceral form and sufferers usually survive into adulthood. Materials and Methods: Here we present clinical and molecular findings for 19 patients with NPO A/B. Results: Nineteen patients with ASM deficiency were enrolled in our study. Nine of them were female and ten patients were male. The median age of the patients was 7.5 years (minimum-maximum: 1-57 years), the median age at diagnosis was 3 years (minimum-maximum: 6 months-56 years). The median length of the follow up period was 4.07 +/- 3.8 years (range: 1 month-14years). Eighteen patients had hepatosplenomegaly, one patient had splenomegaly. Pulmonary involvement was detected in 10 patients. Six patients died during follow up. Conclusion: Patients with Niemann Pick A/B have a high mortality and morbidity rate. There is a need for a safe and effective therapy for patients with NPD A/B to reduce splenomegaly, to improve liver and respiratory function and to reduce the rate of mortality and morbidity.en_US
dc.identifier.doi10.4274/jpr.75046
dc.identifier.endpage27en_US
dc.identifier.issn2147-9445
dc.identifier.issn2147-9445en_US
dc.identifier.issue1en_US
dc.identifier.startpage22en_US
dc.identifier.urihttps://doi.org/10.4274/jpr.75046
dc.identifier.urihttps://hdl.handle.net/11454/30602
dc.identifier.volume5en_US
dc.identifier.wosWOS:000436882600006en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofJournal of Pediatric Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectHepatosplenomegalyen_US
dc.subjectinterstitial pulmonary diseaseen_US
dc.subjectcytopeniaen_US
dc.subjectacid sphingomyelinaseen_US
dc.titleInitial and Final Status of the Patients with Niemann Pick A and B: Ege University Experienceen_US
dc.typeArticleen_US

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