Endocrine Abstracts

We report a 36 year old woman of African origin with a background of HIV and previous AIDS defining pulmonary tuberculosis. The patient has been well on highly active anti-retroviral therapy (HAART) since May 2000. She presented in March 2001 with a four weeks history of fatigue, weight loss, palpitations, polyuria and weakness. Her mother had type 2 diabetes. There is no family history of thyroid disease. Examination showed a thyrotoxic state, a smooth diffuse goitre and prox...

The calcium sensing receptor (CaSR) is a G protein coupled receptor that is expressed in the parathyroids and kidneys, where it plays a pivotal role in the regulation of extracellular calcium homeostasis. Patients with activating CaSR mutations have autosomal dominant hypocalcaemia with hypercalciuria (ADHH), which is associated with polydipsia, polyuria, nephrocalcinosis and renal impairment. The Nuf mouse, which has an activating CaSR mutation (Leu723Gln) has been reported t...

To identify genes causing hypercalciuria, we screened male offspring of C57BL/6J male mice mutagenised by N-ethyl-N-nitrosourea (ENU) for this abnormality. Mice were kept in accordance with UK Home Office welfare guidelines and project licence restrictions. Metabolic cage studies were performed to collect 24-hour urine samples, and this revealed one mouse with hypercalciuria (Hcalc1). Inheritance testing demonstrated that Hcalc1 was inherited as an autosomal domi...