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. METHOD: Prospective observational cohort study. SETTING AND PARTICIPANTS: Thirty-two adult subjects from a national specialist clinic in UK and 86 subjects from an international AS registry were studied. OUTCOMES: First, an international registry cross-sectional study across all age groups to determine change in kidney function was performed. Secondly, a detailed assessment was carried out of adult AS patients with serial follow-up to determine incidence, aetiology and progression of renal disease. ANALYTICAL APPROACH: Generalized estimating equations were used to evaluate the relationship between age and estimated glomerular filtration rate (eGFR). Associations between patient factors and eGFR levels were then assessed in the adult AS cohort. RESULTS: The international registry study of the renal function of 118 subjects with AS (median age 21 years) showed a rapid decline with age, at an average of -16.7 and -10.9 mL/min/1.73 m2 per decade in males and females, respectively. In a UK national cohort of 32 patients with AS (median age 22 years), 20/32 (63%) had chronic kidney disease (CKD) Stage 3 or above based on eGFR <60 mL/min/1.73 m2 or evidence of albuminuria. Hyperuricaemia was noted in 25/32 (79%). Structural abnormalities such as nephrocalcinosis without hypercalcaemia and cysts were observed in 20/32 (63%) subjects. Lower urinary tract symptoms were frequent in 17/19 (70%) of AS patients. Histological evidence showed mixed tubulo-interstitial and glomerular disease. CONCLUSIONS: This is the first study to demonstrate that renal disease is the hallmark of AS, which starts early and progresses with age, leading to a high prevalence of advanced CKD at young age. AS should be considered in the differential diagnosis of rare genetic renal diseases.

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. This led to further questioning, and the patient reported intermittent urinary stress incontinence, feelings of vaginal fullness and severe dyspareunia. It became apparent that these symptoms had been ongoing for 4 years, but the patient had not brought them to the attention of a healthcare practitioner due to feelings of embarrassment and her religious beliefs. These complaints prompted radiological investigation, which revealed extensive bony pelvic deformity, thought to be an extreme manifestation of chronic kidney disease mineral and bone disorder.

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. METHODS: A retrospective review of admissions to the orthopaedic department at Kilimanjaro Christian Medical Centre (KCMC) was completed between February 2015 and 2016. Inpatient record books were used to source epidemiological data which was subsequently analysed. RESULTS: 199 of the 1016 patients admitted sustained tibia/fibula fractures. 78% (n=156) of admissions were male and the most frequently affected age group was 21-30 years. Motor traffic accidents (MTAs) were the most common cause and accounted for 78% of fractures, with nearly half of these involving motorbikes (42%). Falls were identified as the second most common cause (13%). It was determined that 72% (n=143) of fractures were open, 19% (n=38) were comminuted and the most common site of injury was the distal-third of tibia/fibula. The most frequently recorded treatments were surgical toilet/debridement (66% of patients) and the application of a backslab (34% of patients). CONCLUSION: Males in the 21-30 age group, who were involved in MTAs, were most commonly affected by tibia/fibula fractures. Given that MTA incidence is increasing in Tanzania, there is a growing public health concern that this will be reflected by a step-increase in the number of people who sustain lower-limb fractures.

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. Cinacalcet has previously been shown to reduce hypercalcaemia in patients with primary HPT. Despite this, there is a paucity of evidence to suggest that its use is associated with a long-term reduction in urinary calcium excretion and renal stone recurrence. In our case, within 4 months of starting treatment, serum and urinary calcium had normalised and parathyroid hormone concentrations were within reference ranges. To date, over a 50-month treatment period, there has been a complete cessation in stone formation, and no further urological intervention has been required.