Endocrine Abstracts

IntroductionFamilial hypocalciuric hypercalcemia (FHH) is an autosomal dominant trait comprising hypercalcemia, hypophosphatemia and an unusually low renal clearance of calcium. The vast majority of FHH is caused by loss-of-function mutations in the gene CASR, which codes for the calcium-sensing receptor (CASR). CASR is a G-protein coupled membrane receptor expressed in the parathyroid glands and the kidneys, among other tissues. It is generally asymptom...

Introduction: Simultaneous pancreatic kidney transplantation (SPK) has become the therapy of choice in patients with type 1 diabetes mellitus (DM) and end stage diabetic nephropathy.Methods: An analysis was performed of type 1 diabetic patients with end stage diabetic nephropathy who received treatment with SPK between 2001–2011 in the South West of Ireland, population 663,176 with a prevalence of type 1 DM in this region estimated to be 0.3%. Data ...

Introduction: Xanthoma disseminatum (XD) is a rare, non - familial disease characterised by lipid deposition in skin and internal organs due to histiocytic cell proliferation, classified as a non-Langerhans cell histiocytosis. The disease is characterised by symmetrically distributed, coalescing cutaneous papules, initially red–brown then yellow involving the face, trunk, flexural and intertriginous areas. Involvement of mucous membranes has been reported. The upper and l...

Genetics plays a crucial role in the development of metabolic syndrome (MetS). Here we examined the association between endothelial nitric oxide synthase (eNOS) gene polymorphisms and MetS in a Saudi Arabian cohort to extend the understanding of the genetic basis of MetS in diverse ethnic populations. Anthropometric, clinical and biochemical parameters as well as genotyping for 894G>T, −786T>C variants of eNOS gene by PCR–RFLP and 4a/b by direct PCR were per...