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Adult Nephronophthisis – An OverlookedCause of Chronic Kidney Disease: Two Case...

Paes de Faria, Vitória; Dias, Joana; Falcão Reis, Cláudia; Santos, Sofia; Gomes, Ana Marta

Nephronophthisis is the most common monogenic cause of chronic kidney failure within the first three decades of life. Adult-onset disease remains largely underdiagnosed because of its subtle and nonspecific clinical presentation. We report two families with adult-onset chronic kidney disease (CKD), of undetermined aetiology who were subsequently diagnosed with a homozygous pathogenic variant in TTC21B, c.626C&g...

Date: 2026   |   Origin: Portuguese Kidney Journal (PKJ)
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Inconclusive results in genetic testing: explaining uncertainty

Abreu, Maria; Falcão Reis, Cláudia; Álvares, Sílvia

Date: 2023   |   Origin: NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL
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