Coexistence of Gaucher Disease and severe congenital neutropenia
Makaleler > Tam Makale · 2019
Yazarlar: Melis Demir Kose, Ebru CANDA, Mehtap KAĞNICI, Sema KALKAN UÇAR, HÜSEYİN ONAY, Eser YILDIRIM SÖZMEN, Deniz YILMAZ KARAPINAR, Feriştah Ferda ÖZKINAY, Mahmut ÇOKER
BLOOD CELLS MOLECULES AND DISEASES, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2019, cilt 76, ss 1-6
DOI: 10.1016/j.bcmd.2018.07.001
Özet
Gaucher Disease (GD) is the most common lysosomal storage disorder has traditionally been classified into three clinical phenotypes. Type 3 GD is characterized by neurological involvement but neurological symptoms generally appear later in life than in type 2 disease. Neutropenia is much rarer than other hematological manifestations in GD and has not been scrutinized adequately. Severe congenital neutropenia (SCN) is a rare disease entity which is characterized by a paucity of peripherally circulating neutrophils with arrest of neutrophil maturation at the promyelocyte stage and consequent increased susceptibility to severe and recurrent infections. We report a patient who presented in the first year of life with visceral involvement and severe neutropenia in whom the propositus had a unique coexistence of Gaucher Disease and severe congenital neutropenia associated with a mutation in HAX1. In contrast to his expired siblings he had experienced no severe infections. These clinical observations suggest that enzyme replacement therapy may display a modulating factor with respect to the clinical course of SCN.