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- Imaging clinical casePublication . Batista, Ana Rita; Valpaços, Catarina; Sousa, Pedro; Costa, Teresa; Mota, Conceição; Reis, Armando; Faria, Maria Do SameiroHere in is reported the case of a 16-year-old female diagnosed with vitreous haemorrhage and hemangioblastoma of the retina, referred to the Emergency Department due to sudden vision loss. Brain and pelvic magnetic resonance imaging showed cerebellar hemangioblastomas and renal nodular lesions of suspicious nature. The patient was submitted to partial left nephrectomy and histological examination revealed papillary renal cell carcinoma with clear-cell predominance. Clinical diagnosis of Von Hippel-Lindau (VHL) disease was confirmed by genetic study. VHL disease is a hereditary, autosomal dominant syndrome of multiple neoplasms caused by germline mutations in VHL tumor-suppressor gene. Patients are predisposed to development of cysts and hypervascular neoplasms, the most common being hemangioblastomas of the central nervous system (CNS) and retina, cysts and renal cell carcinomas, and pheochromocytomas. VHL diagnosis should be suspected if an individual with family history of VHL presents with a characteristic disease lesion or, in absence of family history of VHL, with two CNS and/or retinal hemangioblastomas or a CNS/retinal hemangioblastoma associated with renal cell carcinoma, pheochromocytoma, pancreatic cysts or endocrine tumor, or epididymal cystadenoma. In VHL disease, imaging plays a key role in detection of abnormalities, follow-up, and screening of asymptomatic mutated gene carriers.
- Estimating the Glomerular Filtration Rate in Pediatric Patients With Neurogenic Bladder: A Comparison Between Creatinine- and Cystatin C-EquationsPublication . Menezes, Catarina; Costa, Teresa; Brás, Catarina; Sousa, Patrícia; Mendes, Ana; Amorim, Rosa; Faria, Maria Do Sameiro; Mota, ConceiçãoBackground and objective Patients with neurogenic bladder (NB) are at a higher risk of developing chronic kidney disease (CKD). Due to their lower muscle mass, the estimated glomerular filtration rate (eGFR) based on creatinine (Cr) may be overestimated and delay the diagnosis of renal failure. This study compared eGFR calculated with different equations based on Cr and/or cystatin C (CysC) in children with NB, and the differences between patients with lower muscle mass (underdeveloped lower limbs) and those with independent gait (less muscle depletion). Methods We calculated the eGFR in pediatric patients with NB and CKD stages 1 and 2 by using the following equations: Chronic Kidney Disease in Children equation for serum creatinine (CKiD-Cr), CKiD-CysC, CKiD combined-Cr/CysC, Zappitelli-CysC, and Zappitelli combined-Cr/CysC. Results We evaluated a total of 47 patients, 74.5% with CKD stage 1, with a median age of 14.1 years. Of these participants, 59.6% had lipo/myelomeningocele. The CKiD-Cr and CysC-based equations led to significantly lower calculated eGFR (p<0.05), specifically CKiD-CysC (p<0.001), Zappitelli-CysC (p<0.001), CKiD-Cr/CysC (p<0.001), and Zappitelli combined-Cr/CysC (p<0.05). When CKiD-CysC was used, 68% of the patients moved to a more advanced CKD stage. In patients without independent gait, with lower muscle mass (55.3%), the median eGFR calculated using the CKiD-Cr and CKiD combined-Cr/CysC equations was significantly higher (p<0.05). However, there were no differences between the two groups when using the other CysC-based equations. Conclusion In patients with NB and poor muscle mass, the CKiD-Cr equation may overestimate renal function. CysC-based equations seem more reliable in these patients, especially in those with greater muscular atrophy.
- Identifiable relatives in the family history: not without individual consentPublication . Nunes, José Pedro L.; Faria, Maria Do Sameiro; Abreu Amorim, CarlosThe family history is a traditional section of the clinical record. Data on family members in the clinical record may be anonymous but yet these may be easily identifiable; therefore, exposing the relatives of the patient to the fact that a written record is produced, mentioning them, without their consent. This is in direct contradiction with European data protection and other regulations and in contradiction with a reasonable ethical perspective. For the purpose of obtaining an image of the present state of affairs, we used as a convenience sample, the series of Case Records published in 2019 in The New England Journal of Medicine (January to December). From a total number of 40 reports, identifiable relatives were present in 30. The number of identifiable relatives varied between none and 6. It is not the right of each individual to disclose sensitive clinical information regarding other persons, without consent from these latter. Family history should no longer include identifiable relatives, unless consent is obtained from each identifiable person. The authors offer the following guidelines on this topic: (1) Do not mention any identifiable relative of the patient in the medical history without consent from the said relative; (2) Do not mention in the family history clinical conditions seemingly unrelated to the present clinical situation; (3) Do not mention in the family history clinical conditions that the patient does not (him/) herself have and that may be seen as social stigmata; (4) Consult the institutional Ethics committee in case of reasonable doubt.
- 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.