Clinically-Defined Maturity Onset Diabetes of the Young in Omanis: Absence of the common Caucasian gene mutations.

OBJECTIVES: We are seeing a progressive increase in the number of young patients with clinically defined maturity onset diabetes of the young (MODY) having a family history suggestive of a monogenic cause of their disease and no evidence of autoimmune type 1 diabetes mellitus (T1DM). The aim of this study was to determine whether or not mutations in the 3 commonest forms of MODY, hepatic nuclear factor 4α (HNF4α), HNF1α and glucokinase (GK), are a cause of diabetes in young Omanis. METHODS: The study was performed at Sultan Qaboos University Hospital (SQUH), Oman. Twenty young diabetics with a family history suggestive of monogenic inheritance were identified in less than 18 months; the median age of onset of diabetes was 25 years and the median body mass index (BMI) 29 at presentation. Screening for the presence of autoimmune antibodies against pancreatic beta cells islet cell antibody (ICA) and glutamic acid decarboxylase (GAD) was negative. Fourteen of them consented to genetic screening and their blood was sent to Prof. A. Hattersley's Unit at the Peninsular Medical School, Exeter, UK. There, their DNA was screened for known mutations by sequencing exon 1-10 of the GCK and exon 2-10 of the HNF1α and HNF4α genes, the three commonest forms of MODY in Europe. RESULTS: Surprisingly, none of the patients had any of the tested MODY mutations. CONCLUSION: In this small sample of patients with clinically defined MODY, mutations of the three most commonly affected genes occurring in Caucasians were not observed. Either these patients have novel MODY mutations or have inherited a high proportion of the type 2 diabetes mellitus (T2DM) susceptibility genes compounded by excessive insulin resistance due to obesity.

Multiple Bone Metastases in a Patient with Differentiated Thyroid Cancer (DTC): Complete resolution following thyroidectomy and four ablation doses of I-131.

Multiple bone metastases from a differentiated thyroid cancer are usually incurable. We report the case of a young Omani woman who presented with 8 discrete skeletal lesions three years after a total thyroidectomy. Following four ablation doses of I-131 she has remained in clinical and biochemical remission for over five years. An extraordinary aspect of this case was the persistent refusal of her husband to use contraception either for himself or his wife. This resulted in her treatment being delayed for more than 6 years during which time the patient delivered and breastfed four additional healthy babies.

The Diagnosis and Management of Severe Hypercalcaemia: A simplified approach - Report of five cases.

Hypercalcaemia is a common medical problem, can be a manifestation of many diseases and, when severe, can represent a life-threatening medical emergency. Making the correct diagnosis is important to prevent unnecessary investigations and parathyroidectomies. At Sultan Qaboos University Hospital, Oman, we have recently seen five patients with severe hypercalcaemia (calcium ≥3.5 mmol/L), most of whom had been misdiagnosed for months or even years. The clinical examination, evaluation of the fasting serum calcium, phosphate, creatinine and 24-hour urine calcium levels together with a review of their radiographs accurately predicted the pathophysiology of the disorder and successfully guided our investigative procedures well before the results of hormone assays became available.

Familial mineralocorticoid induced hypertension in the sultanate of oman.

OBJECTIVES: In Oman, many hypertensive patients with a family history of the disease respond to treatment with spironolactone, a mineralocorticoid receptor (MC-R) blocking agent thus suggesting a high prevalence of mineralocorticoid (MC) induced disease. The aim of this study was to document the prevalence of MC induced disease in patients with a positive family history of hypertension (HTN). METHODS: Serum calcium, potassium, creatinine, aldosterone and renin levels were measured under standard conditions in all patients together with an abdominal ultrasound scan and an adrenal computed tomography (CT) scan in four patients. RESULTS: In this small study, we show that 18 of the 27 patients (66%) had undetectable (suppressed) renin levels with usually normal aldosterone values (14 patients) and respond to treatment with spironoactone. CONCLUSION: We suggest that MC induced hypertension is likely to be common in the Middle East. In evolutionary terms, this makes sense as the ability to conserve salt in hot climates might be expected to confer a definite survival advantage.