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논문분류	춘계학술대회 초록집
제목	Hypomagnesemia as first clinical manifestation of 17q12 microdeletion including HNF1B
저자	Minyoung Kim1, Sungjin Chung2, Seok Joon Shin2, Cheol Whee Park2, Yoon Sik Chang2, Eun Sil Koh1
출판정보	2018; 2018(1):
키워드	hypomagnesemia \| HNF1B \| 17q12 microdeletion
초록	Case Study: Background: Hepatocyte nuclear factor 1β encoded by the HNF1B is a member of the homeodomain-containing family of transcription factors and the most commonly identified genetic cause of renal malformations. Besides, HNF1B mutation is well known to associate with pancreatic dysfunction as diabetes, genitalia malformation, liver dysfunction, primary hyperparathyroidism and neuropsychiatric feature like epilepsy and autism. Chromosome 17q12 microdeletion syndrome encompasses several genes including HNF1B and is characterized by a diverse spectrum of phenotypic manifestations with variable expressivity. Methods: We report here a case of hypomagnesemia as first clinical manifestation of 17q12 microdeletion including HNF1B. Results: A 40-year-old woman with history of uterine didelphys presented with muscular weakness and paresthesia of both hands. Her serum creatinine and magnesium (Mg) was 0.76 (0.51-0.95 mg/dL) and 0.6 mg/dL (1.9-2.5 mg/dL), respectively. Hypocalcemia and hypokalemia were also noted as low as 6.4 mg/dL (8.1-10.6 mg/dL) and 3.1 mmol/L (3.5-5.1 mmol/L). Intact-PTH was 32.9 pg/mL. She received oral and intravenous calcium, potassium and magnesium replacement therapy; serum calcium and potassium values normalized but serum magnesium level remained low. Urine chemistry revealed pathologic hypermagnesuria with elevated fractional magnesium excretion at 10.9%. Previous abdominal and pelvic computed tomography (CT) revealed not only the female genitalia malformation but also a multiple renal cysts in both kidneys with calyceal stones in right kidney and a pancreatic cyst. Patient DNA was sent in for gene sequencing to find gene mutation related to hypomagnesemia. Array comparative genomic hybridization (array CGH) revealed a 17q12 microdeletion, which included the HNF1B gene. Conclusion: This case reports the patient with 17q12 microdeletion including HNF1B in whom hypomagnesemia was the first and predominant symptom of disease and illustrates the impairment of renal Mg2+ handling can arise when renal function is preserved in the patient with HNF1b mutation.
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