SavedAdd your journal

Journals / Mustafa Kemal Üniversitesi Tıp Dergisi / 2016 / Cilt: 7 - Sayı: 27

Association of Gaucher’s Disease with Hypoparathyroidism: Co-incidence or a Novel Association?

Kaba SULTAN
Murat DOĞAN
Keziban Aslı Bala
Kaan Demirören
Nihat Demir
Nesrin Ceylan
Pages
1–1
Publication Date
2016-09-30
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

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

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

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Gaucher’s disease-related hypoparathyroidism is a condition that hasn’t been previously described.
📊
Key Findings & Data:Gene muatation analysis was result in two mutation; (c.(1192C>T);(1226A>G) and p.(Arg359Term);(Asn370Ser).
💡
Conclusion & Impact: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
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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, child

🔖

Cite This Article

SULTAN, K., DOĞAN, M., Bala, K. A., Demirören, K., Demir, N., Ceylan, N. (2016). Association of Gaucher’s Disease with Hypoparathyroidism: Co-incidence or a Novel Association?. Mustafa Kemal Üniversitesi Tıp Dergisi, Cilt: 7 - Sayı: 27, 1–1. https://ajindex.com/articles/692834

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (7)

  1. Gaucher P. De l'epithelioma primitive de la rate, hypertrophie idiopathique de la rate sans leucemie [Doctoral thesis]; 1882. 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.
  2. Mistry PK, Cox TM. The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme. J Med Genet 1993; 30: 889–94.
  3. Vellodi A, Tylki-Szymanska A, Davies EH, Kolodny E, Bembi B, Collin-Histed T, et al. Management of neuronopathic Gaucher disease: revised recommendations. J Inherit Metab Dis 2009; 32: 660–4.
  4. Hill SC, Reining JW, Barranger J, Fink J, Shawker TH. Gaucher disease: sonographic appearance of the spleen. Radiology 1984; 160: 631–4.
  5. 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.
  6. 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.
  7. 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.