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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

Portuguese Society of Gastroenterology Consensus on the Diagnosis and Managemen...

Salgueiro,Paulo; Caetano,Ana Célia; Oliveira,Ana Maria; Rosa,Bruno; Mascarenhas-Saraiva,Miguel; Ministro,Paula; Amaro,Pedro; Godinho,Rogério

Hemorrhoidal disease (HD) is a frequent health problem with considerable repercussions on patients’ quality of life. However, much of the clinical practice related to HD is based on knowledge without scientific evidence and supported largely by empirical experience of the physician who deals with this pathology. As in other countries, the goal of this consensus is to establish statements supported by solid scie...

Date: 2020   |   Origin: SciELO Portugal

Polidocanol Foam Injected at High Doses with Intravenous Needle: The (Almost) P...

Fernandes,Vítor; Fonseca,Jorge

Background and Aims: Hemorrhoid disorders are common. This study aimed to assess the efficacy and safety of polidocanol foam injected at high doses with intravenous needle for the treatment of symptomatic internal hemorrhoids that prolapse or bleed. Methods: We evaluated 2,000 consecutive patients with prolapsed hemorrhoids (grades II/III/IV) recruited over 6 years. Foam injection was performed in one to four s...

Date: 2019   |   Origin: SciELO Portugal

Adult Celiac Disease: The Importance of Extraintestinal Manifestations

Nunes,Gonçalo; Barosa,Rita; Patita,Marta; Fernandes,Vítor; Gonçalves,Diogo; Fonseca,Jorge

Celiac disease (CD) is a chronic immune-mediated enteropathy driven by gluten and affecting individuals of all ages. The diagnosis of CD in adulthood is emerging and patients often present with nonclassical extraintestinal manifestations. We report the case of a 53-year-old man presenting with neuromuscular symptoms, skin rash, inconspicuous chronic diarrhea, marked weight loss, and biochemical markers of malab...

Date: 2017   |   Origin: SciELO Portugal

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