Browsing by Author "Ferreira, Maria Gomes"
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- Abordagem da glicosúria renal na criança: a propósito de um caso clínicoPublication . Pais, Patrícia; Reis, Filipa; Fraga, Sofia; Ferreira, Maria Gomes; Amaral, RosárioIntroduction: The accidental finding of glycosuria should lead to the exclusion of diabetes mellitus. In the absence of hyperglycemia, glycosuria is probably of renal origin. It can be isolated, as in familiar renal glycosuria, or it can be part of a hereditary tubular disorder such as Fanconi-Bickel syndrome or associated with an acquired tubular dysfunction. The renal and tubular function should be investigated. Case report: The authors describe the case of a previously healthy five-year old child with persistent glycosuria of renal cause. The investigation showed the coexistence of elevated renal excretion of glycine. Discussion: Familiar renal glycosuria and hyperglycinuria are caused by genetic defects in different renal tubular membrane transporters. The rare association of glycosuria and glycinuria was only described in one family in the 1960’s. The authors discuss the possible pathophysiologic mechanisms of this association and the importance of studying other tubulopathies in a child with glycosuria as it has prognostic and clinical management implications.
- A case of unexpected travelersSilva, Ana Castelbranco; Lança, Ana Ferreira; Nunes, Tómas; Martins, Rita; Ferreira, Maria GomesHuman myiasis is the infestation of humans with dipterous larvae. Cutaneous myiasis is the most common form and is one of the most common travel-associated skin diseases. The condition should be suspected when furuncle or boil-like skin lesions are observed in patients travelling from endemic regions. Herein is described the case of a toddler who had travelled from Guinea-Bissau seven days earlier and presented with a six-day history of painful furuncle-like swellings on the left thigh and scrotum. Two larvae were collected from one of the lesions, and entomological analysis confirmed the diagnosis of cutaneous myiasis. Complete larvae extraction is the primary treatment goal, and adequate preservation of the maggots is essential for public health analysis.