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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,IsabelAbstract 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...
Raising Awareness Towards Underdiagnosed Renal Hypouricemia: A Case Report
Lisboa-Gonçalves,Pedro; Ferreira,Filipa; Tavares,Isabel; Oliveira,João PauloABSTRACT Renal hypouricemia (RHUC) is an autosomal recessive disease caused by the dysfunction of uric acid (UA) transporters in the proximal tubule causing increased fractional excretion of uric acid (FEUA). It is associated with mutations of SLC22A12 that codifies for URAT1, involved in RHUC type 1, or SLC2A9 which codifies for GLUT9 and is involved in RHUC type 2. We present the case of a man diagnosed with ...
Quality of Reporting in Upper Gastrointestinal Endoscopy: Effect of a Simple Au...
Lisboa-Gonçalves,Pedro; Libânio,Diogo; Marques-Antunes,Joana; Dinis-Ribeiro,Mário; Pimentel-Nunes,PedroBackground and Aim: In contrast to colonoscopy, there are few studies regarding upper gastrointestinal (UGI) endoscopy reporting its quality and ways of improving it. Quality audits are recommended, but their influence on the abovementioned quality is not well studied. Our aim was to evaluate the quality of UGI endoscopy reports and assess the effect of a simple audit intervention on UGI endoscopy reporting qua...