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논문분류	춘계학술대회 초록집
제목	A case of Gitelman syndrome with SLC12A3 gene mutation
저자	Yi-An Huang
출판정보	2024; 2024(1):
키워드
초록	This was a 19-year-old female patient without past medical history, came to our hospital due to dysuria for 3 days. Progressive diffuse abdominal pain noted for a week. The pain was like squashed by the elephant, and had not related to meals or posture. Nausea sensation with poor appetite (<1/4 amount of regular diet) accompanied, but there was no vomiting or diarrhea. She took some analgesic agents from pharmacy and the pain had partial relieved. At emergent department stay, the vital signs were body temperature 36.9’C, pulse 87 beats per minute, respiratory rate 18 respirations per minute, and blood pressure 121/75mmHg. Lab analysis revealed no leukocytosis but mild elevated of hsCRP with value of 1.25mg/dl ( <1 mg/dl). Normal renal function with Creatinine but hypokalemia (K: 2.3 mmol/L) and hypomagnesemia(Mg 1.3mg/dl) were found. Urine analysis showed pyuria. With diagnosis of right side Acute Pyelonephritis and hypokalemia, we gave her Cravit 750mg once a day and KCL 15meq once a day. For hypokalemia work-up, we checked serum data analysis as following: artery gas showed pH value 7.48 , HCO3 36.5 mmol/L, osmolarity 294 mOsm/kg, ACTH(random) 9.32pg/ml(<46), Cortisol(random) 1.25 ug/dL, TSH 2.496 uIU/mL (0.34-5.60), free T4 0.98 ng/dL (0.54-1.40), Aldosterone: 0.83 ng/dL(6.8-17.3 ng/dL), PRA 0.14ng/mL/hr(supine: 0.32-1.84, stand for 2 hours: 0.60-4.18), and ARR 5.93 ng/dL per ng/mL/hour (<30). Urine data analysis showed osmolarity 258* mOsm/kg, Creatinine: 35.86 mg/dL, Urine Potassium(K) 7.2 mmol/L, and Urine Chloride(CL) 86 mmol/L. Suspected Gitelman syndrome, we sent her serum specimen or genetic analysis and found there were mutation point over c.536T>A, p.Val179Asp, c.2542G>A, and p.Adp848Asn of SLC12A3 gene.
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