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

There is a need for a safe and effective therapy for patients with NPD A/B to reducesplenomegaly, to improve liver and respiratory function and to reduce the rate of mortality and morbidity.

📌 3 Key Takeaways

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Objective & Hypothesis:Aim: Niemann-Pick disease (NPD) is a lysosomal storage disease caused by an insufficient activity of acid sphingomyelinase (ASM) resulting in the accumulation ofsphingomyelin.

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Key Findings & Data:Type A is an infantile neurovisceral fatal form characterized by hepatosplenomegaly and rapidly progressive neurological deterioration, while the Type B nonneuronopathicdisease 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.

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Conclusion & Impact:There is a need for a safe and effective therapy for patients with NPD A/B to reducesplenomegaly, to improve liver and respiratory function and to reduce the rate of mortality and morbidity.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Özet

Aim: Niemann-Pick disease (NPD) is a lysosomal storage disease caused by an insufficient activity of acid sphingomyelinase (ASM) resulting in the accumulation ofsphingomyelin. Type A is an infantile neurovisceral fatal form characterized by hepatosplenomegaly and rapidly progressive neurological deterioration, while the Type B nonneuronopathicdisease 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 was7.5 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 was4.07±3.8 years (range: 1 month-14 years). Eighteen patients had hepatosplenomegaly, one patient had splenomegaly. Pulmonary involvement was detected in 10 patients. Sixpatients 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 reducesplenomegaly, to improve liver and respiratory function and to reduce the rate of mortality and morbidity.

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Cite This Article

CANDA, E., YAZICI, H., ER, E., UÇAR, S. K., ONAY, H., SÖZMEN, E. Y., ÖZKINAY, F. F., ÇOKER, M. (2018). Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience. The Journal of Pediatric Research, Cilt: 5 - Sayı: 1, 22–27. https://ajindex.com/articles/362921

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