PENDEKATAN DIAGNOSIS DAN TATA LAKSANA PORFIRIA KUTAN PADA ANAK
DOI:
https://doi.org/10.33820/mdvi.v53i2.568Keywords:
porfiria, porfiria kutan anak, heme, fotosensitivitasAbstract
Porfiria adalah kelainan metabolisme bawaan (inborn error of metabolism) yang disebabkan oleh defek enzim pada jalur biosintesis heme, sehingga mengakibatkan akumulasi porfirin dan prekursornya. Porfiria kutan pada anak, seperti protoporfiria eritropoietik, porfiria eritropoietik kongenital, dan porfiria hepatoeritropoietik umumnya ditandai dengan fotosensitivitas serta lesi kulit khas pada area terpajan sinar matahari. Manifestasi klinis dapat berupa nyeri, eritema, vesikel atau bula, hingga skar. Selain kelainan kulit, komplikasi sistemik berupa gangguan hepatobilier dan hematologis juga dapat terjadi yang memperburuk prognosis pasien. Diagnosis porfiria pada anak sering terlambat akibat kurangnya kesadaran dan pengetahuan tentang penyakit ini. Pendekatan diagnosis dilakukan dengan pemeriksaan klinis, pemeriksaan kadar porfirin dalam darah, urin, dan feses, serta konfirmasi melalui pemeriksaan genetik. Tata laksana umumnya bersifat suportif dan preventif, terutama dengan menghindari pajanan sinar matahari dan menggunakan fotoproteksi. Oleh karena itu, pemahaman yang baik mengenai penyakit ini penting untuk diagnosis dini dan tatalaksana yang tepat guna mencegah komplikasi serta meningkatkan kualitas hidup pasien.
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