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

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

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 abnormal...

Date: 2025   |   Origin: Portuguese Kidney Journal (PKJ)
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