ABSTRACT
INTRODUCTION: Gitelman syndrome is an inherited autosomal recessive renal salt-wasting disorder. It presents with variable clinical symptoms including muscle weakness and fatigue, and the diagnosis is based on metabolic alkalosis, hypokalemia, hypomagnesemia and hypocalciuria. It is usually diagnosed incidentally in early adulthood. There are rare cases of Gitelman syndrome presenting in early childhood; however, to the best of our knowledge it has not previously been associated with delayed puberty. CASE PRESENTATION: A 17-year-old South Asian man with recurrent episodes of generalized muscle weakness, fatigue and cramps from the age of two years was admitted for further workup. Before the age of 12 years, the episodes had been mild, but they then got progressively worse. Other symptoms include polyuria, polydipsia, nocturia, paresthesia and occasional watery diarrhea. He also had a history of short stature, poor weight gain and delayed developmental landmarks. His family history was unremarkable except for the consanguineous marriage of his parents. An examination revealed a thin and lean man with blood pressure of 95/60mmHg. His height and weight were below the third percentile and his sexual development was at Tanner Stage II. Laboratory work revealed serum sodium of 124mmol/L, potassium 2.4mmol/L, calcium 6.5mmol/L and magnesium of 1.2mg/dL. His testosterone level was low (0.85ng/mL, normal for his age 2.67 to 10.12ng/mL) with normal levels of luteinizing hormone and follicle-stimulating hormone. The sex hormone findings were attributed to delayed puberty. A 24-hour urinary analysis revealed decreased excretion of calcium (25.9mg/24 hours). Based on the findings of hypokalemic metabolic alkalosis without hypertension, severe hypomagnesemia and hypocalciuria, a diagnosis of Gitelman syndrome was made. Treatment was started with oral supplementation of potassium, magnesium and calcium along with spironolactone and liberal salt intake. CONCLUSION: Diagnosis of Gitelman syndrome is usually made incidentally during adolescence or early adulthood based on clinical and biochemical findings. We report that Gitelman syndrome can present during the early childhood years. If undiagnosed and untreated, it can lead to growth retardation and delayed puberty.
ABSTRACT
OBJECTIVE: To estimate the frequency of undiagnosed vitamin B12 deficiency among patients with type 2 diabetes mellitus who had not taken metformin during at least the prior 5 years and to ascertain whether vitamin B12 deficiency among the patients with type 2 diabetes was due to nutritional deficiency or malabsorption. METHODS: Serum vitamin B12 levels were measured in 44 subjects with diabetes and a mean age of 51 years (range, 40 to 70), 21 (48%) of whom had low levels (<200 pg/mL). Of those 21 patients, 10 agreed to enroll in an intervention phase consisting of oral supplementation with mecobalamin, 1,500 microg daily for 3 months. Those patients in whom vitamin B12 levels failed to normalize after oral supplementation alone would be presumed to have vitamin B12 deficiency attributable to malabsorption. RESULTS: Almost half of the subjects with type 2 diabetes not taking metformin had biochemically proven vitamin B12 deficiency. All 10 subjects who enrolled in the intervention phase had normalization of their vitamin B12 levels after 3 months of oral supplementation with mecobalamin. CONCLUSION: We conclude that vitamin B12 deficiency is common among patients with type 2 diabetes and was related to nutrition in our study group. In addition to intensive glycemic control, vitamin B12 supplementation should be considered for treatment of diabetic neuropathy. In almost 50% of patients with low vitamin B12 levels, the deficiency was corrected with oral supplementation only. This, indeed, is an important finding, inasmuch as oral vitamin B12 supplementation is easy, convenient, and readily accepted by patients. This finding highlights the need for aggressive and early diagnosis and treatment to avoid complications of vitamin B12 deficiency.
