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Journals / Turkish Journal of Hematology / 2010 / Cilt: 27 - Sayı: 4

Hemofagositik sendrom ve Niemann-Pick hastalığı birlikteliği

Niemann - Pick disease associated with hemophagocytic syndrome

Serap KARAMAN
NAFİYE URGANCI
GÜNSEL KUTLUK
Feyzullah ÇETİNKAYA
Pages
303–307
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

To the best of our knowledge, this is the first case of NPD associated with HLH and the first demonstration of hemophagocytosis by Niemann-Pick cells.

📌 3 Key Takeaways

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Objective & Hypothesis:Hemophagocytic lymphohistiocytosis (HLH) is a disease characterized by phagocytosis of blood cells by macrophages within the lymphoreticular tissue.
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Key Findings & Data:A three-month-old girl presented with high fever (39°C), abdominal distension and paleness.
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Conclusion & Impact:To the best of our knowledge, this is the first case of NPD associated with HLH and the first demonstration of hemophagocytosis by Niemann-Pick cells.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a disease characterized by phagocytosis of blood cells by macrophages within the lymphoreticular tissue. It can develop secondary to some diseases or be familial as a result of genetic mutations. Niemann-Pick disease (NPD) is a very rare lipid storage disease. A three-month-old girl presented with high fever (39°C), abdominal distension and paleness. The parents were consanguineous. The liver and spleen were palpable 10 cm and 11 cm below the costal margins, respectively. Bicytopenia (Hb: 5.5 g/dl, platelet: 77000/mm3), hypertriglyceridemia (351 mg/dl), hyperferritinemia (>1500 ng/dl) and hypofibrinogenemia (120 mg/dl) were detected. Bone marrow aspiration demonstrated foam cells and hemophagocytosis by macrophages and Niemann-Pick cells. Lysosomal sphingomyelinase activity was 0.24 nmol/h/mg/protein (normal: 0.86-2.8). Due to the parents’ refusal of further evaluation, the nature of HLH as primary or secondary could not be determined. To the best of our knowledge, this is the first case of NPD associated with HLH and the first demonstration of hemophagocytosis by Niemann-Pick cells.

Özet

Hemofagositik lenfohistiositoz (HLH), lenforetiküler dokudaki makrofajların kan hücrelerini fagosite etmesiyle karakterize olan, genetik olarak mutasyonlara bağlı ailevi veya bazı hastalıklara ikincil gelişen bir hastalıktır. Nieman-Pick hastalığı ise bir lipid depo hastalığı olup son derece nadir görülmektedir. Üç aylık kız hasta yüksek ateş (39°C), karın şişliği ve solukluk nedeni ile başvurdu. Ebeveynler arasında ikinci derecede akrabalık vardı. Karaciğer 10 cm, dalak 11 cm ele geliyordu. Hastada bisitopeni (Hb: 5,5 gr/dl, trombosit: 77000/mm3), hipertrigliseridemi (351 mg/dl), hiperferritinemi (>1500 ng/dl), hipofibrinojenemi (120 mg/dl) tesbit edildi. Kemik iliği aspirasyonunda köpük hücresi, makrofajlar ve Niemann-Pick hücreleri tarafından yapılan hemofagositoz görüldü. Lizozomal sfingomyelinaz aktivitesi 0.24 nmol/hr/mg/ptn (normal: 0.86-2.8) bulundu. Hastadaki HLH’nin primer veya sekonder olduğu, ailenin tetkiki kabul etmemesi nedeni ile incelenemedi. Olgumuz literatürde Niemann-Pick ile birlikte HLH’nin saptandığı ilk vakadır ve Niemann-Pick hücresinin de hemofagositoz yaptığı ilk kez gösterilmiştir.

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Cite This Article

KARAMAN, S., URGANCI, N., KUTLUK, G., ÇETİNKAYA, F. (2010). Hemofagositik sendrom ve Niemann-Pick hastalığı birlikteliği. Turkish Journal of Hematology, Cilt: 27 - Sayı: 4, 303–307. https://ajindex.com/articles/413161

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