- 期刊
Finnish Type Congenital Nephrotic Syndrome With Exon Sequencing Confirmation in Taiwan: A Case Report
摘要
Congenital nephrotic syndrome Finnish type (CNF) is a rare and severe kidney disorder starting soon after birth, characterized by premature birth, a small size for gestational age, and an enlarged placenta. Early-onset nephrosis with heavy proteinuria, hyperlipidemia, hypercoagulopathy, and an immunocompromised status often causes poor growth and early mortality if not treated promptly. The current treatment strategy of parenteral albumin supplementation, a hyper-caloric and protein-abundant diet, and medications to prevent and treat complications has improved patient outcomes by making curative renal transplantation possible. This report describes a female newborn diagnosed with CNF incidentally before the onset of symptoms. To the best of our knowledge, she was the first CNF case with a diagnosis confirmed by genetic testing (whole-exon sequencing) in Taiwan.
延伸閱讀
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