RESUMO
BACKGROUND: Mucopolysaccharidosis type II, an X-linked recessive disorder is the most common lysosomal storage disease detected among Filipinos. This is a case series involving 23 male Filipino patients confirmed to have Hunter syndrome. The clinical and biochemical characteristics were obtained and mutation testing of the IDS gene was done on the probands and their female relatives. RESULTS: The mean age of the patients was 11.28 (SD 4.10) years with an average symptom onset at 1.2 (SD 1.4) years. The mean age at biochemical diagnosis was 8 (SD 3.2) years. The early clinical characteristics were developmental delay, joint stiffness, coarse facies, recurrent respiratory tract infections, abdominal distention and hernia. Majority of the patients had joint contractures, severe intellectual disability, error of refraction, hearing loss and valvular regurgitation on subspecialists' evaluation. The mean GAG concentration was 506.5 mg (SD 191.3)/grams creatinine while the mean plasma iduronate-2-sulfatase activity was 0.86 (SD 0.79) nmol/mg plasma/4 h. Fourteen (14) mutations were found: 6 missense (42.9%), 4 nonsense (28.6%), 2 frameshift (14.3%), 1 exon skipping at the cDNA level (7.1%), and 1 gross insertion (7.1%). Six (6) novel mutations were observed (43%): p.C422F, p.P86Rfs*44, p.Q121*, p.L209Wfs*4, p.T409R, and c.1461_1462insN[710]. CONCLUSION: The age at diagnosis in this series was much delayed and majority of the patients presented with severe neurologic impairment. The results of the biochemical tests did not contribute to the phenotypic classification of patients. The effects of the mutations were consistent with the severe phenotype seen in the majority of the patients.
Assuntos
Mucopolissacaridose II/sangue , Mucopolissacaridose II/metabolismo , Adolescente , Criança , Códon sem Sentido/genética , Éxons/genética , Feminino , Mutação da Fase de Leitura/genética , Glicosaminoglicanos/sangue , Glicosaminoglicanos/metabolismo , Humanos , Iduronato Sulfatase/genética , Iduronato Sulfatase/metabolismo , Doenças por Armazenamento dos Lisossomos/sangue , Doenças por Armazenamento dos Lisossomos/genética , Doenças por Armazenamento dos Lisossomos/metabolismo , Masculino , Mucopolissacaridose II/genética , Mutação , Mutação de Sentido Incorreto/genética , FilipinasRESUMO
Osteogenesis imperfecta (Ol) type V is distinct Ol phenotype that has recently been described. Patients with this phenotype present characteristically with interosseous membrane calcification and hyperplastic callus formation. We present the clinical and radiographic characteristics of two Filipino families diagnosed to have Ol type V. Through this review of cases, we aim to educate healthcare providers by highlighting salient clinical and radiographic features to aid in the recognition of this specific Ol phenotype, difficulties in diagnosis, current practices in management and fracture prevention, and issues in genetic counseling.
Assuntos
Humanos , Osteogênese Imperfeita , Pacientes , Calo Ósseo , Fenótipo , Diagnóstico , Aconselhamento GenéticoRESUMO
The provision of culturally competent health care is an important professional issue recognized by the pioneer genetic counselors in the Philippines. Being an archipelago consisting of 7,107 islands, the Philippines has approximately 175 ethnolinguistic groups with their own unique cultural identity and health practices. The emphasis on culture in our genetic counseling training recognizes its crucial role in molding an individual's conceptualization of health, as well as other life aspects, especially since the Filipino culture is a mixture of indigenous as well as imported and borrowed elements. As part of this endeavor, we will describe in this paper seven common Filipino cultural beliefs: namamana, lihi, sumpa, gaba, pasma, namaligno, and kaloob ng Diyos. We will also share examples on how these common beliefs provide explanation as cause of illness and its implications in our genetic counseling profession.
