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Sat-285￭
17q12 Microdeletion Syndrome represented as Hypomagnesemia
가톨릭대학교 내과학교실
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나재원, 손종호, 정성진, 박철휘, 고은실
Background: HNF1B gene located on chromosome 17q12 associates with the development of collecting ducts and nephrons. Mutations in HNF1B gene can cause renal cysts, pancreatic hypoplasia, genital tract malformations and maturity-onset diabetes of young. Although 50–60% of patients with HNF1B mutation develop hypomagnesemia, HNF1B mutations are mainly identified in patients with structural kidney defects. Herein, we reported two cases who revealed hypomagnesemia as first clinical manifestation of chromosome 17q12 microdeletion including HNF1B gene. Case 1: A 40-year-old woman pre- sented with muscular weakness and paresthesia of both hands. Her serum magnesium level was 0.6 mg/dL (1.9-2.5 mg/dL) with increased renal fractional excretion of magnesium (10.9 %). Hypocalcemia and hypokalemia were also noted with metabolic alkalosis. The abdominal and pelvic computed tomog- raphy (CT) revealed not only the uterine didelphys but also multiple renal cysts in both kidneys with calyceal stones and a pancreatic cyst. The patient’s DNA was sequenced for gene mutations to consider Gitelman’s syndrome. However, the array comparative genomic hybridization (array CGH) showed a 1.4 Mb sized 17q12 microdeletion, which included the HNF1B gene (Figure 1). Case 2: A 57-year-old woman who came to the clinic for left arm tingling sensation presented with hypomagnesemia (1.0 mg/dL). Her serum potassium and calcium level were within normal range and renal fractional excretion of magnesium was increased (10.6 %). The abdominal and pelvic CT revealed benign cystic neoplasm in the pancreas tail, calcified uterine fibroids and renal medullary calcinosis with multiple renal cysts. The results of array CGH with her genomic DNA isolated peripheral blood indicated a 1.6 Mb sized 17q12 microdeletion including HNF1B gene. Conclusion: The patients with renal magnesium wasting should be analyzed for HNF1B mutation to find other dis- ease entities of HNF1B-associated diseases. Key Words: hypomagnesemia; HNF1B; 17q12 microdeletion
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Sat-286￭
The relationship between selenium deficiency and cardiovascular diseases in hemodialysis patients
단국대학교병원 내과
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김성민, 김소미
Background/Aims: Cardiovascular disease(CVD) is the main cause of death in hemodialysis(HD) patients. Selenium is an essential trace element and it has been known to prevent cardiovascular disease by protecting the of oxidative stress using selenium-dependent glutathione peroxidases. Therefore, we in- vestigate the effect of selenium deficiency on CVH in HD patients. Methods: A total of 80 HD patients was enrolled. The patients were divided into 2 groups based on selenium deficiency. The CVD were evaluated using echocardiography, coronary computed tomography or coronary angiography.
Results: Although there was no significant difference, the prevalence of ischemic heart disease showed higher tendency in selenium deficient group than that in non- selenium deficient group (54 % vs 32 % p=0.06). And it showed similar results in heart failure (HF) and cardiomyopathy between the two groups (HF: 36 % vs. 24%, p=0.09, cardiomyopathy: 18% vs 13%, p=0.25) Conclusions: This study showed the higher tendency of prevalence of CVD in HD patients with selenium deficiency. The large sample sized studies are needed.
