Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience
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Tarih
2018
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Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Aim: 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 nonneuronopathic disease presents visceral form and sufferers usually survive into adulthood. Materials and Methods: Here we present clinical and molecular findings for 19 patients with NPD 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-14 years). 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.
Açıklama
Anahtar Kelimeler
Pediatri
Kaynak
The Journal of Pediatric Research
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Cilt
5
Sayı
1 özel
