e-ISSN 2147-2475

Hzl Arama




Laparoscopic Endoscopic Surgical Science nterstisyel Akcier Hastal ile Prezente Olan Niemann-Pick Tip B Olgusu [Respir Case Rep]
Respir Case Rep. 2021; 10(3): 190-194 | DOI: 10.5505/respircase.2021.68815

nterstisyel Akcier Hastal ile Prezente Olan Niemann-Pick Tip B Olgusu

Glah Gnlolu1, Pelin Pamir1, Aye Yeter1, Elif Yelda zgn Niksarlolu1, Merve Dilad Gn1, Nurcan nver2, Gngr amsar1
1Yedikule Gs Hastalklar ve Gs Cerrahisi Eitim ve Aratrma Hastanesi, Gs Hastalklar Anabilim Dal, stanbul
2Yedikule Gs Hastalklar ve Gs Cerrahisi Eitim ve Aratrma Hastanesi, Patoloji Anabilim Dal, stanbul

Niemann-Pick hastal, asit sfingomiyelinaz eksiklii sonucu retikloendotelyel hcrelerde sfingolipidlerin biriktii nadir bir lizozomal depo hastaldr. formu tanmlanmtr. Niemann-Pick tip B, farkl arlkta klinik bul-gulara sahip olduundan hastalarn prezentasyonu ve hastalk progresyonu farkldr. Lipid depolanma yava ve progresif olup multipl organda bozulma oluturur. Hastalar ounlukla erikin yata tan alrlar ve pulmoner tutulum sklkla grlr. Olgumuz, 32 yanda kadn hasta, ksrk ve dispne i-kayetleri ile bavurusu sonras interstisyel akcier hastal n tans ile, giriimsel ilemi kabul etmediinden spesifik tan almadan uzun sredir takip edilmekteydi. Semptomlarnda progresyon olmas nedeni ile yaplan ak akcier biyopsisi, kpks sitoplazmal histiyositler olarak sonuland. Sonrasnda splenomegali ve trombositopeni nedeni ile yaplan kemik ilii biyopsisinde geni yama tarznda depo hastal ile uyumlu histiyositik infiltrasyon gsteren hafif hiposelller kemik ilii grlmesi sonucu, Niemann-Pick tip B tansna ulald. Depo hastalklar nadir grlmesi sebebi ile interstisyel akcier hastalk-lar ayrc tansnda n planda dnlme-mekle birlikte sistemik semptom varlnda akla getirilmelidir.

Anahtar Kelimeler: Niemann-Pick, depo hastal, interstisyel akcier hastal, splenomegali, trombositopeni.

A Case of Niemann-Pick type B Presented with Interstitial Lung Disease

Glah Gnlolu1, Pelin Pamir1, Aye Yeter1, Elif Yelda zgn Niksarlolu1, Merve Dilad Gn1, Nurcan nver2, Gngr amsar1
1Department of Chest Disease, Yedikule Chest Diseases and Thoracic Surgery Training and Research Hospital, Istanbul, Turkey
2Department of Pathology, Yedikule Chest Diseases and Thoracic Surgery Training and Research Hospital, Is-tanbul, Turkey

Niemann-Pick disease is a rare lysosomal storage disease in which sphingolipids ac-cumulate in reticuloendothelial cells due to acid sphingomyelinase deficiency, three forms of which have been defined to date. Since Niemann-Pick Type B has different clinical findings, the patient presentation and disease progression can differ. Lipid storage is slow and progressive and leads to deterioration in multiple organs. Patients are mostly diagnosed in adulthood and pulmo-nary involvement is common. In our case, a 32-year-old female patient with complaints of cough and dyspnea was on long-term follow-up with a prediagnosis of interstitial lung disease, but with no specific diagnosis as she declined invasive procedures. An open lung biopsy performed due to the progression of symptoms resulted in histiocytes with foamy cytoplasm. A diagnosis of Niemann-Pick Type B was subsequently reached after a large patchy, mild hypocel-lular bone marrow with histiocytic infiltration, compatible with storage disease, was identified from a bone marrow biopsy performed for splenomegaly and thrombocytopenia. Since storage diseases are rare they are not considered in the differential diagnosis of interstitial lung diseases, but should be considered in the presence of systemic symp-toms.

Keywords: Niemann-Pick, storage disease, interstitial lung disease, splenomegaly, thrombocytopenia.

Glah Gnlolu, Pelin Pamir, Aye Yeter, Elif Yelda zgn Niksarlolu, Merve Dilad Gn, Nurcan nver, Gngr amsar. A Case of Niemann-Pick type B Presented with Interstitial Lung Disease. Respir Case Rep. 2021; 10(3): 190-194

Sorumlu Yazar: Pelin Pamir, Trkiye
Makale Dili: ngilizce
LookUs & Online Makale