TY  - JOUR
TT  - Association of Gaucher’s Disease with Hypoparathyroidism: Co-incidence or a Novel Association?
AU  - Sultan, Kaba
AU  - Doğan, Murat
AU  - Bala, Keziban Aslı
AU  - Demirören, Kaan
AU  - Demir, Nihat
AU  - Ceylan, Nesrin
PY  - 2016
DA  - September
DO  - 10.17944/mkutfd.41900
JF  - The Medical Journal of Mustafa Kemal University
JO  - mkutfd
PB  - Hatay Mustafa Kemal Üniversitesi
WT  - DergiPark
SN  - 2149-3103
SP  - 0
EP  - 0
VL  - 7
IS  - 27
N2  - 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, child
CR  - Gaucher P. De l'epithelioma primitive de la rate, hypertrophie idiopathique de la rate sans leucemie [Doctoral thesis] ; 1882.
CR  - Brill NF, Mandelbaum M, Libman E. Primary splenomegaly-Gaucher type. Report on one of four cases occurring in a single generation in one family. Am J Med Sci 1905; 129: 491–504.
CR  - Mistry PK, Cox TM. The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme. J Med Genet 1993; 30: 889–94.
CR  - Vellodi A, Tylki-Szymanska A, Davies EH, Kolodny E, Bembi B, Collin-Histed T, et al.
CR  - Management of neuronopathic Gaucher disease: revised recommendations. J Inherit Metab Dis 2009; 32: 660–4.
CR  - Hill SC, Reining JW, Barranger J, Fink J, Shawker TH. Gaucher disease: sonographic appearance of the spleen. Radiology 1984; 160: 631–4.
CR  - Neudorfer O, Hadas-Halpem I, Elstein D, Abrahamov A, Zimran A. Abdominal ultrasound findings mimicking haematological malignancies in a study of 218 Gaucher patients. Am J Hematol 1997; 55: 28–34.
CR  - Hughes D, CappelliniM, BergerM, Van Droogenbroeck J, de FostM, Janic D, et al. Recommendations for themanagement of the haematological and onco-haematological aspects of Gaucher disease. Br J Haematol 2007; 138: 676–86.
CR  - George R, McMahon J, Lytle B, Clark B, Lichtin A. Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation. Clin Genet 2001; 59: 360–3.
UR  - https://doi.org/10.17944/mkutfd.41900
L1  - https://dergipark.org.tr/tr/download/article-file/264264
ER  -