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The Role of Genetic Testing in Diagnosing ADTKD-HNF1B in a Pregnant Woman

Fernandes,Vítor; Lisboa-Gonçalves,Pedro; Vasconcelos,Alice Porto; Faria,Bernardo; Tavares,Isabel

Abstract Autosomal dominant tubulointerstitial kidney disease (ADTKD) accounts for approximately 2%‑5% of monogenic causes of chronic kidney disease (CKD) and remains frequently underrecognized due to its heterogeneous clinical presentation. We report the case of a 37‑year‑old pregnant woman diagnosed with CKD, initially attributed to chronic pyelonephritis. She presented with bilateral renal cysts, electrolyte...

Date: 2025   |   Origin: SciELO Portugal
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