RESUMO
Mucopolysaccharidoses are a group of lysosomal storage disorders caused by deficiency of enzymes catalyzing the degradation of glycosaminoglycans. Mucopoly-saccharidosis I can present a wide range of phenotypic characteristics with three major recognized clinical entities: Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression. These are caused by the deficiency or absence of α-L-iduronidase, essential to the metabolism of both dermatan and heparan sulfate, and it is encoded by the IDUA gene. We report the case of a 34-year-old male patient with enzymatic deficiency of α-L-iduronidase, accumulation of its substrate and a previously unreported mutation in the IDUA gene that developed a phenotype of Scheie syndrome.
Las mucopolisacaridosis son un grupo de trastornos de almacenamiento lisosomal causada por la deficiencia de enzimas que catalizan la degradación de glicosaminoglicanos. La mucopolisacaridosis tipo I puede presentar un amplio rango de características fenotípicas englobadas en tres entidades clínicas reconocidas: los síndromes de Hurler y Scheie representan los fenotipos graves y leves del espectro clínico, respectivamente y el síndrome de Hurler-Scheie intermedio en la expresión fenotípica. Estos son causados por la deficiencia o ausencia de la α-L-iduronidasa esencial para el metabolismo del dermatán y el heparán sulfato y es codificada por el gen IDUA. Se presenta el caso de paciente masculino de 34 años de edad con deficiencia enzimática de α-L-iduronidasa, acumulación de su sustrato y una mutación en el gen IDUA, no reportada previamente, que desarrolló un fenotipo del síndrome de Scheie.
Assuntos
Adulto , Humanos , Masculino , Iduronidase/genética , Mutação de Sentido Incorreto , Mucopolissacaridose I/genética , Mutação Puntual , Substituição de Aminoácidos , Progressão da Doença , Dermatan Sulfato/urina , Éxons/genética , Glicosaminoglicanos/metabolismo , Heterozigoto , Deformidades Adquiridas da Mão/genética , Íntrons/genética , Imageamento por Ressonância Magnética , Mucopolissacaridose I/urina , Fenótipo , Deleção de Sequência , Avaliação de Sintomas , Compressão da Medula Espinal/etiologia , Compressão da Medula Espinal/patologiaRESUMO
Trigger finger is a common disease particularly in the middle aged women. A very rare case in which an adult man had 10 trigger fingers was experienced. He was treated with local steroid injections in both thumbs, but trigger finger disease has been aggravated in every digit of both hands. We performed an early operative treatment. Three months after the operation, the patient could perform his work without discomfort in his hands and showed normal range of motion in all fingers.