Percorrer por autor "Freitas, Joana"
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- The emerging landscape of SGLT2 inhibitors in pediatric populations with kidney diseases: A comprehensive literature reviewFreitas, Joana; Machado, Sara Nogueira; Vieira, Beatriz; Monteiro, Sara; Faria, Sameiro; Costa, Teresa; Mota, ConceiçãoSodium-glucose cotransporter 2 inhibitors (SGLT2i), originally developed as innovative antihyperglycemic agents, have demonstrated significant benefits in improving metabolic markers and protecting the kidneys and heart in patients with or without type 2 diabetes mellitus. The mechanisms behind these unexpected cardiorenal benefits cannot be attributed solely to improved glycemic control. Recent data suggest that metabolic reprogramming plays a role in the development of cardiorenal metabolic disease.Despite the effectiveness of SGLT2i in the management of chronic kidney disease (CKD)-related comorbidities in adults, their use in the pediatric population remains to be validated. The challenge in pediatric CKD lies in the imbalance between the metabolic needs of a growing child and the declining functional capacity of a failing kidney. Developing strategies to address modifiable factors in the progression of kidney disease is critical given the extended lifespan of the pediatric population. SGLT2i have emerged as innovative candidates for the treatment of CKD in children. By improving renal hemodynamic adaptation and mitigating overall CKD complications, these agents have the potential to be a novel therapeutic option for pediatric patients. This review will focus on the current understanding of how SGLT2i may provide cardiorenal protection.
- Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease – A Rare Case Concerning PMM2 Gene PleiotropyPublication . Borges, Teresa; Fortuna, Ana; Faria, Maria Do Sameiro; Oliveira, Maria João; Freitas, Joana; Santos Silva, Ermelinda; Quelhas, D; Figueiredo, Catarina Matos; Soares, Ana RitaCo-occurrence of hyperinsulinaemic hypoglycaemia and polycystic kidney disease (HIPKD) has been recently described. It is caused by a non-coding variant in the promoter region for phosphomannomutase 2 (PMM2), c.-167G>T, both in homozygous or compound heterozygous variants with deleterious coding. Although PMM2 has been associated with congenital disorder of glycosylation, patients do not present with this phenotype and have normal carbohydrate-deficient transferring testing. The authors present a rare case where specific PMM2 study was performed as a result of clinical suspicions. The patient was a 6-year-old female followed at our clinic due to congenital hyperinsulinism since she was 1 month old. She also presented with bilateral polycystic kidneys, detected in prenatal set, and simple hepatic cysts, for which she was treated with diazoxide and captopril. Initial metabolic and genetic studies were normal. PMM2 gene sequence study revealed the promotor variant c.-167G>T in compound heterozygosity with the previously described pathogenic variant c.422G>A (p.Arg141His), confirming the diagnosis of HIPKD. This is a notable case as it highlights the importance of keeping this diagnostic hypothesis in mind and serves as a reminder to perform proper clinical and genetic investigation. A correct, and early, diagnosis will avoid unnecessary additional investigations and will allow appropriate genetic counselling for this autosomal recessive disorder.
- Pediatric Thyroidectomy: Experience From a Portuguese HospitalPublication . Vieira, Paula; Barbosa Sequeira, Joana; Santos Monteiro, Sílvia; De Carvalho Vaz, Ana; da Silva Cardoso, Juliana; Ribeiro, Luís; Mendes, Catarina; Freitas, Joana; Ribeiro de Castro, João; Borges, Teresa; Oliveira, Maria JoãoBackground and objective Pediatric thyroid disease requiring surgery is rare. Thyroid nodules are a frequent indication for surgery and are mostly benign. However, up to 25% of cases can be malignant. In this study, we aimed to describe our center's experience with regard to pediatric thyroid surgery. Methods This was a retrospective transverse study involving pediatric patients who underwent thyroid surgery at a tertiary hospital between January 2010 and December 2021. Results A total of 14 patients underwent 15 surgeries. The main reason for referral to pediatric endocrinology was thyroid nodules (n=10). Thirteen fine needle aspirations (FNAs) were performed, with follicular tumor (n=6) being the most common finding. The median age of patients at surgery was 15.9 years [interquartile range (IQR): 14.0-16.8]. The most common surgical indications were the presence of a follicular tumor on FNA (n=5) and thyroid nodule size causing symptoms (n=5). There was one case of prophylactic thyroidectomy due to the identification of a multiple endocrine neoplasia type 2A (MEN2A) mutation. The most frequently described histopathology results were follicular adenoma (n=6) and colloid nodular goiter (n=6). Three postoperative complications were observed in three different patients: bilateral lesion of the recurrent laryngeal nerve, cervical hematoma, and transient hypoparathyroidism with hypocalcemia. Conclusion In our study, the most frequent surgical indication was a follicular tumor. A good correlation was found between FNA cytology and final histopathology results, which is in accordance with previous studies. This reinforces the importance of FNA in diagnosis and surgical planning. The rate of complications in our study is comparable to that in larger single-center series in the literature.