Case report: familial hypocalciuric hypercalcemia.

Background: Familial hypocalciuric hypercalcemia (FHH) is a hypercalcemic syndrome that is usually characterized by uncomplicated hypercalcemia and normal longevity. The inheritance pattern is autosomal dominant with high penetrance, and it affects both men and women equally. FHH is caused by mutations that disturb the normal functioning of the calcium-sensing receptor (CaSR) gene. This causes a general lack of sensitivity to calcium, eventually leading to hypercalcemia and low calcium levels in the urine. Case Description: We report a case of a healthy 24-year-old female with longstanding hypercalcemia and a family history indicating asymptomatic hypercalcemia. The patient was also asymptomatic and had no significant past medical or surgical history. Laboratory investigations and the genetic study revealed findings suggestive of FHH subtype 1. Conclusions: The phenotype of FHH is normal, and symptoms of hypercalcemia are usually not present. Patients with FHH and hypoparathyroidism have lower calcium clearance than controls with hypoparathyroidism. This shows that relative hypocalciuria in FHH is not caused by hyperparathyroidism. Since calcium does not appropriately suppress or affect the parathyroid glands in FHH, this means that FHH is a disorder of abnormal transport of extracellular calcium and/or response to it in at least two organs, the parathyroid gland and the kidney. It is quite similar to primary hyperparathyroidism (pHPT) biochemically hence it is important to differentiate this condition from pHPT and hypercalcemia caused by other diseases to avoid any unnecessary surgical or medical intervention.

Lifestyle factors and macro- and micro-vascular complications among people with type 2 diabetes in Saudi Arabia.

AIMS: The aim of this study is to identify lifestyle factors that place people with type 2 diabetes in Saudi Arabia at a greater risk of macro- and microvascular complications. METHODS: A survey was conducted among adults with type 2 diabetes who attended diabetes centres in three major cities in Saudi Arabia. Participants were interviewed and their medical files were reviewed for lab test results and documented comorbidities. Associations between complication and lifestyle factors were assessed using multiple logistic regression analysis. RESULTS: A total of 1121 participants were recruited. Mean age was 57.6 (±11.1) years. The prevalence of coronary artery disease, diabetic foot, and stroke was 17.0%, 13.1% and 3.7%, and that of neuropathy, renal impairment, and retinopathy was 20.3%, 14.5%, and 42.8% respectively. Lifestyle factors associated with one or more of the complications were inadequate physical activity, longer sitting time, obesity, current or past smoking, passive smoking, hypertension, poor glycaemic control, low HDL and high triglycerides. CONCLUSIONS: Diabetes complications are common among people with type 2 diabetes in Saudi Arabia. Life style factors such as inadequate physical activity, longer sitting time, obesity, smoking, hypertension, and poor control of blood glucose and lipids should be assimilated into complications prevention program.