ABSTRACT
Background: Hypercalcemia is a common metabolic abnormality of varying severity that can be adequately diagnosed and treated. Primary hyperparathyroidism and malignant neoplasms are responsible for >90% of all cases. Objectives: To study the clinical presentation and etiological profile of hypercalcemic patients at a district level hospital over a period of 24 months. The number of patients of hypercalcemia due to other rare cause like vitamin D intoxication have been increasing mainly due to over the counter supplementation. Methods: Forty patients, 22 males with a mean age of 50±10.2 and 18 females with mean age 45±7.6 with hypercalcemia were studied. The first step in evaluating hypercalcemia was confirming it first, with an initial evaluation including the measurement of intact parathyroid hormone , 25-hydroxy vitamin D levels and alongwith imaging wherever required. Results: Out of 40 patients studied, the most common clinical presentations were symptoms of aches and pains in 12 patients and incidental finding of hypercalcemia in 10 patients, altered sensorium in 6 patients. In etiological profile, the most common etiology was vitamin D intoxication in 10 patients followed by hyperparathyroidism in 9 patients and malignanacy in 7 patients respectively. Conclusion: In our study vitamin D intoxication (VDI) was the most common cause of hypercalcemia. as compared with multiple studies previously which showed malignancy and hyperparathyroidism as predominant causes. Inadvertent excessive use of pharmaceutical preparations is the most common etiology of exogenous vitamin D toxicity.
ABSTRACT
Maternally inherited diabetes with deafness is rare diabetes caused by a mitochondrial DNA defect. 85% of cases are associated with m.3243A N G mutation. The phenotypic heterogeneity of MIDD may be the consequence of different levels of mutated mtDNA among mitochondria in a given tissue. It is important to diagnose this form of diabetes because of the unique management issues and associated comorbidities. A very strong family history of diabetes, deafness and presence of retinal dystrophy should prompt an investigation for MIDD. Microvascular complications out of keeping with duration of diabetes are another clue to the diagnosis. Retinal and renal manifestations of mitochondrial disease may be confused for diabetic complications. Glutamic acid decarboxylase (GAD) autoantibody negativity in a nonobese diabetic is another clue. Cardiac conduction defects and GDM may also raise suspicion as to the diagnosis. Recognizing this etiology of DM should promote family screening, genetic counseling, screening of associated comorbidities, avoidance of metformin, and cautious use of statins. Methods: We screened a total of 125 patients with diabetes and after careful history and examination, family history and screening, focused examination by ENT and an ophtho specialist and imaging of brain along with fundus photography, we found out a total of 7 patients with monogenic diabetes. Results: Out of 125 patients screened ,there were 5 females and 2 males.5 out of 7 patients were having maternal history and were diagnosed after 4 to 12 years of diabetes duaration.5 out of 7 patients had neurological involvement and 4 out of 7 patients had hearing impairment.5 out of 7 patients had retinal findings on fundus photography. Conclusion: Recognizing this etiology of DM should promote family screening, genetic counseling, screening of associated comorbidities, avoidance of metformin, and cautious use of statins.