RESUMO
La diabetes MODY (Maturity Onset Diabetes of the Young) comprende un grupo heterogéneo de enfermedades monogénicasque se caracterizan por la disfunción de las células β. Se estima que ellas son responsables de 2-5% de los casos de diabetes. Seconocen más de 200 mutaciones en el gen de la glucoquinasa (GCK). En este trabajo se expone el caso de dos hermanas enlas cuales se realizó el diagnóstico de MODY 2 a través del estudio genético, hallándose una mutación del gen de la GCK nodescripto previamente en la bibliografía.
MODY (maturity onset diabetes of the young) includes a heterogeneous group of monogenic diseases which are characterized bydysfunction of beta cells. It accounts for 2-5% of all cases of diabetes. Over 200 mutations in the glucokinase (GCK) gene are known.In this paper we discuss the cases of two sisters in which the diagnosis of MODY 2 was performed by genetic studies, and report thefinding of a mutation in the GCK gene not previously described in the literature.
Assuntos
Humanos , Feminino , Criança , Hiperglicemia , Diabetes Mellitus , Glucoquinase/genética , Mutação/genéticaRESUMO
Parathyroid cysts are uncommon: about 200 cases have been reported. They can be functional (i.e., accompanied by signs of primary hyperparathyroidism), or nonfunctional. Preoperative diagnosis is difficult, although it has become increasingly frequent with the use of ultrasound and fine-needle aspiration biopsy. Fluid of parathyroid cysts is almost invariably watery, colorless, and crystal clear, which should cause clinical suspicion. However, definitive diagnosis relies on the demonstration of high parathyroid hormone (PTH) levels in the fluid. Puncture may cure nonfunctioning cysts, but surgery is indicated when the lesion recurs after several fine-needle aspirations. We report a case of a nonfunctioning parathyroid cyst in a 17-year-old boy, which reappeared after two punctures made 6 months apart. On the third occasion, 1 mL of a sterile tetracycline solution injected into the cyst cured the lesion. Tetracycline and other sclerosants have been recommended as a treatment of recurring thyroid cysts. We suggest that injection of a sclerosant should be considered as an alternative to surgery in recurring, nonfunctional cysts of the parathyroid glands.