Case Report

Kelainan elektrolit berulang pada pasien dengan kecurigaan Sindrom Gitelman

Beny Surya Wijaya , Kadek Wisnu Segara Karya

Beny Surya Wijaya
Departemen Ilmu Penyakit Dalam, Rumah Sakit Bhayangkara, Denpasar, Bali. Email: beny_surya_wijaya@yahoo.com

Kadek Wisnu Segara Karya
Rumah Sakit Bhayangkara, Denpasar, Bali
Online First: October 25, 2021 | Cite this Article
Wijaya, B., Karya, K. 2021. Kelainan elektrolit berulang pada pasien dengan kecurigaan Sindrom Gitelman. Intisari Sains Medis 12(3): 777-784. DOI:10.15562/ism.v12i3.1082


Pendahuluan: Sindrom Gitelman merupakan tubulopati yang terjadi akibat mutasi pada gen Solute Carrier Family 12 Member 3 (SLC12A3), yang mengkode thiazide-sensitive natrium chloride co-transporter (NCCT) pada membran apikal sel tubulus distal. Sindrom ini bersifat autosomal resesif yang ditandai dengan hipokalemia, alkalosis metabolik, hipomagnesemia, dan hipokalsiuria. Gejala yang sering muncul adalah kram dan kelemahan mulai dari keterbatasan aktivitas ringan hingga berat.

Laporan kasus: Laki-laki usia 19 tahun datang dengan keluhan lemas disertai kaku otot seluruh anggota gerak dan leher, mual, muntah, nyeri kepala, dan nyeri ulu hati. Pasien memiliki riwayat rawat inap tiga kali dengan keluhan serupa. Pada pemeriksaan fisik ditemukan tanda vital dalam batas normal, serta adanya tanda Chvostek. Pemeriksaan darah lengkap dalam batas normal. Pemeriksaan elektrolit menunjukan kadar natrium 118 mmol/L, kalium 2,16 mmol/L, dan klorida 74 mmol/L. Pasien sudah berulang kali melakukan pemeriksaan elektrolit dengan hasil hipokalemia. Delapan bulan sebelumnya, pasien dirawat akibat penurunan kesadaran dengan gambaran alkalosis metabolik, hipokalemia (2,59 mmol/L), hipomagnesemia (0,76 mg/dL) dan hipokalsemia (8,2 mg/dL). Pemeriksaan fungsi ginjal, urinalisis, dan elektrokardiografi dalam batas normal. Berdasarkan keluhan, riwayat penyakit, dan pemeriksaan penunjang berupa hipokalemia berulang, alkalosis metabolik, dan hipomagnesemia, maka dicurigai suatu Sindrom Gitelman. Pasien diterapi dengan kalium klorida (KCl) intravena 50 mEq dalam natrium klorida (NaCl) 0,9% 500 cc dengan laju 20 tetes per menit, tablet KCl 600 mg tiap 8 jam, kapsul garam dapur 500 mg tiap 12 jam, omeprazole serta ondansetron intravena sesuai keluhan. Pasien dirawat inap satu hari dan dipulangkan setelah kadar kalium terkoreksi (3,1 mmol/L) dan keadaan klinis membaik. Pemeriksaan analisis DNA untuk penegakan diagnosis tidak dilakukan karena keterbatasan fasilitas dan biaya.

Kesimpulan: Sindrom Gitelman merupakan tubulopati yang bersifat autosomal resesif ditandai dengan hipokalemia, alkalosis metabolik, hipomagnesemia, dan hipokalsiuria. Tatalaksana sindrom ini tergantung pada klinis dan gangguan laboratorium. Suplemen natrium, kalium, dan magnesium merupakan terapi yang paling sering dibutuhkan.

 

Introduction: Gitelman syndrome is a tubulopathy that occurs due to mutations in the Solute Carrier Family 12 Member 3 (SLC12A3) gene, which encodes thiazide-sensitive sodium chloride co-transporter (NCCT) in the apical membrane of distal tubule cells. This autosomal recessive syndrome characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalsiuria. Common symptoms are cramps and weakness ranging from mild to severe limitation of activity.

Case Report: a 19 years-old-man present a general weakness accompanied by muscle stiffness throughout the limbs and neck, nausea, vomiting, headache, and heartburn. The patient had a history of hospitalization three times with similar complaints. Normal vital signs and Chvostek's sign were found on physical examination. Complete blood count was within normal limits. Electrolyte examination showed sodium 118 mmol/L, potassium 2.16 mmol/L, and chloride 74 mmol/L. The patient had repeated episode of hypokalemia. In the previous eight months, he was admitted due to decreased of consciousness with metabolic alkalosis, hypokalemia (2.59 mmol/L), hypomagnesemia (0.76 mg/dL) and hypocalcemia (8.2 mg/dL). Kidney function, urinalysis, and electrocardiography within normal limits. Based on complaints, medical history, and the results of investigations a Gitelman syndrome was suspected. The patient was treated with 50 mEq intravenous KCL in 500cc NaCl 0,9% at a rate of 20 drops per minute, 600 mg KCl tablets every 8 hours, 500 mg table salt capsules every 12 hours, intravenous omeprazole and ondansetron as needed. The patient discharged after the potassium level was corrected (3.1 mmol/L) and improved clinical condition. Follow-up examination in the form of DNA analysis was not carried out due to limited facilities and funding.

Conclusion: Gitelman syndrome is an autosomal recessive tubulopathy characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. Management of this syndrome in accordance with clinical and laboratory abnormalities that occur. The most frequently needed therapy are sodium, potassium, and magnesium supplement.

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