Defining renal phenotype in Alström syndrome.

Background: Alström syndrome (AS) is a rare autosomal recessive ciliopathy with a wide spectrum of clinical features, including cone-rod retinal dystrophy, neuronal deafness, severe insulin resistance and major organ failure. The characteristics of renal disease in the syndrome have not been systematically described. The aim of this study is to define the onset and progression of renal disease in AS.

Extreme bony pelvic deformity in a renal transplant patient.

A 35-year-old female renal transplant recipient was referred to the metabolic bone clinic because of a 15 cm loss of height. She was noted to have thoracic kyphosis and vertebral X-ray confirmed a wedge fracture of the eighth thoracic vertebra. She was managed accordingly but on subsequent follow-up mentioned in passing that her gynaecologist had been unable to obtain a cervical smear for routine screening.

The epidemiology and management of tibia and fibula fractures at Kilimanjaro Christian Medical Centre (KCMC) in Northern Tanzania.

Introduction: Tibia/fibula fractures are one of the commonest admissions to the orthopaedic department at a resource-limited Northern Tanzanian hospital. These fractures are associated with poor prognosis and pose a huge socioeconomic burden on developing countries. However, to date there is a paucity of epidemiological data on lower-limb fractures in Tanzania.

Successful treatment of recurrent renal stones with Cinacalcet in a patient with primary hyperparathyroidism.

A man aged 72 years with long-standing primary hyperparathyroidism (HPT), a background of recurrent bilateral renal stones and failed parathyroid surgery is described. During the 27 months preceding treatment, episodes of renal colic became increasingly frequent and he required multiple surgical interventions. Given the lack of medical therapies to definitively treat his symptoms, he was started on a trial of the calcimimetic, Cinacalcet.