Sindrom Nefrotik Monogenik: Pendekatan Klinis dan Diagnosis

Reza Fahlevi, Partini Pudjiastuti Trihono, Dina Muktiarti, Pustika Amalia Wahidiyat, Eka Laksmi Hidayati, Cut Nurul Hafifah

Sari


Sindrom nefrotik merupakan penyakit ginjal yang sering ditemukan pada anak-anak, dengan insiden 1-3 per 100.000 anak di bawah usia 16 tahun. Sekitar 10-20% anak dengan sindrom nefrotik mengalami sindrom nefrotik resisten steroid (SNRS), dan 10-30% dari kasus ini disebabkan oleh kelainan genetik. Pada SNRS monogenik, terdapat dua jenis yaitu sindromik (dengan gejala ekstra-renal) dan non-sindromik (tanpa gejala ekstra-renal). Penanganan SNRS memerlukan pendekatan klinis yang berbeda tergantung pada etiologi genetiknya. Pemeriksaan genetik, termasuk gen tunggal, panel multigen, dan genomik komprehensif, dapat mengidentifikasi varian patogenik, menetapkan diagnosis yang akurat, menyesuaikan terapi (termasuk penghentian terapi imunosupresan dan pemberian terapi yang lebih spesifik) konseling genetik, serta penanganan komprehensif terhadap manifestasi ekstra-renal terkait. Oleh karena itu, pendekatan klinis yang efektif harus didasarkan pada hasil pemeriksaan genetik untuk pengelolaan yang optimal dan konseling yang lebih tepat.

Kata Kunci


genetik; ginjal; monogenik; sindrom; nefrotik

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Referensi


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DOI: http://dx.doi.org/10.14238/sp26.3.2024.189-96

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