- Mustafa Kemal Üniversitesi Tıp Dergisi
- Vol: 7 Issue: 27
- Association of Gaucher’s Disease with Hypoparathyroidism: Co-incidence or a Novel Association?
Association of Gaucher’s Disease with Hypoparathyroidism: Co-incidence or a Novel Association?
Authors : Kaba Sultan, Murat Doğan, Keziban Aslı Bala, Kaan Demirören, Nihat Demir, Nesrin Ceylan
Pages : 0-0
Doi:10.17944/mkutfd.41900
View : 23 | Download : 6
Publication Date : 2016-07-30
Article Type : Other
Abstract :Gaucher’s disease-related hypoparathyroidism is a condition that hasn’t been previously described. Here, we presented a ten years old boy referred to our clinic due to hypocalcemic convulsion who was found to have splenomegaly, bicytopenia and hypoparathyroidism. Gene muatation analysis was result in two mutation; (c.(1192C>T);(1226A>G) and p.(Arg359Term);(Asn370Ser). In the context of this patient with Gaucher’s disease, we will discuss whether this association is co-incidence or a novel finding. Keywords: Gaucher’s diease, Hypoparathyroidism, childKeywords :