Tatiana Amorim

Aspectos clínicos da fenilcetonúria em serviço de referência em triagem neonatal da Bahia

OBJETIVOS: descrever as caracteristicas clinicas dos pacientes com hiperfenilalaninemia acompanhados no Servico de Referencia em Triagem Neonatal (SRTN) do estado da Bahia. METODOS: estudo descritivo transversal, tendo como amostra todos os pacientes com diagnostico conhecido de Hiperfenilalaninemia residentes no estado da Bahia e acompanhados no SRTN ate setembro de 2005. Tal populacao e composta de 46 familias, num total de 51 pacientes. A analise dos dados foi descritiva, incluindo medidas de tendencia central e dispersao. RESULTADOS: houve discreto predominio do genero feminino (52,9%). A maioria dos pacientes (78,4%) teve seu diagnostico estabelecido atraves da triagem neonatal, tendo, portanto, tratamento precoce. Consanguinidade foi registrada em 32,6% das familias. A media de inicio do tratamento entre os pacientes diagnosticados pela triagem neonatal foi de 56,6 37,8 dias, enquanto que entre os pacientes com diagnostico tardio, foi de 7,1 anos. CONCLUSOES: o estudo descreve um grupo de pacientes representativo de uma patologia incluida no Programa Nacional de Triagem Neonatal (PNTN), sendo, portanto, de relevância para a saude publica. Entre os dados clinicos, chama a atencao a media de idade do inicio do tratamento, superior ao recomendado na literatura, alertando para a necessidade de um maior enfoque no diagnostico precoce.

Dried blood spot testing for the antenatal screening of HTLV, HIV, syphilis, toxoplasmosis and hepatitis B and C: prevalence, accuracy and operational aspects

INTRODUCTION Screening for vertically transmitted infection is mandatory and must be conducted at the first prenatal consultation. The most vulnerable womens groups are those at the lowest socio-economic level. Dried blood spot testing on filter paper could represent a secure way to screen pregnant women in the prenatal period. METHODS A cross-sectional study was conducted between November 2009 and March 2010, in the Metropolitan Region of Salvador, Bahia, Brazil, to compare the accuracy of the dried blood spot in filter paper and venipuncture serological as screening methods for HIV, HTLV, VHB, VHC, Treponema pallidum, and Toxoplasma gondii during prenatal period. Results of the venous blood sample collected in tubes were considered the gold standard. RESULTS Serum samples and dried blood spot were obtained from 692 pregnant women aged between 14 and 42 years, with a median age of 26. Thirteen women were seropositive for T. gondii (1.88%; 95% CI: 0.60-2.71%), five for T. pallidum (0.72%; 95% CI: 0.15-1.61%), two for HBV (0.29%; 95% CI: 0.050.95%) and one for HTLV-1 (0.14%; 95% CI: 0.01-0.71%). No one was positive for HCV and HIV. The dried blood spot accuracy for syphilis and HTLV were 100% (95% CI: 99.25-100) and 100% (95% CI: 99.45-100%), respectively. The average time between blood collection and recording of the sample in the reference laboratory was 4.93 (3.82) days and between dried blood spot processing and active search for pregnant women was 3.44 (4.27) days. CONCLUSIONS The use of dried blood spot may represent a secure way to expedite access to results of vertically transmitted diseases in the prenatal period, particularly in regions with scarce healthcare resources.

Aspectos clínicos e demográficos da fenilcetonúria no Estado da Bahia

OBJETIVO: Describir las caracteristicas clinicas y demograficas de los pacientes con diagnostico de Hiperfenilalaninemia (HPA) seguidos en el Servicio de Referencia en Seleccion Neonatal de Bahia. METODOS: Estudio transversal incluyendo a 99 familias (111 afectados) con fenotipo bioquimico de HPA, con recoleccion de datos en prontuarios y en base de datos laboratorial, incluso aspectos demograficos y clinicos. Se realizo el analisis descriptivo de los datos utilizando promedios (desviacion estandar) y medianas (percentiles 25-75). RESULTADOS: La incidencia de HPA en Bahia fue de un caso a cada 16.334 nacidos vivos (NV), con cobertura de 90,8%. Entre los pacientes seguidos, el 82% fueron diagnosticados por la seleccion neonatal, y en 11 familias habia mas de un caso. El fenotipo clasico de la fenilcetonuria fue diagnosticado en 63 (56,8%) pacientes. Entre los seleccionados, la mediana de edad en la primera consulta fue de 39,5 dias (fenilcetonuria clasica) y, de ellos, el 34% presentaba sintomas en ese momento, ninguno de ellos con retraso en el desarrollo neuropsicomotor. La consanguinidad fue descrita en 32,2% de los casos y hubo predominio de pacientes clasificados como blancos (63%). Los padres tenian baja escolaridad y bajos ingresos. Entre los 417 municipios de Bahia, el 14,6% presentaba al menos un caso, con concentracion en la region nordeste (9,9%) y capital de la provincia (14,4%). CONCLUSIONES: Los resultados evidenciaron edad tardia al inicio del tratamiento, lo que puede comprometer los resultados del programa. Se observo, ademas, la presencia de consanguinidad y recurrencia familiar, reforzando la importancia de investigacion familiar para diagnosticar individuos con deficiencia mental de etiologia no aclarada que pueden beneficiarse de tratamiento.Objective: To describe demographic and clinical characteristics of patients with hyperphenylalaninemia followed at the Neonatal Screening Reference Service of Bahia, Brazil. Method: Cross-sectional study including 99 families (111 affected individuals) with biochemical phenotype of hyperphenylalaninemia by chart review and laboratory database that include demographic and clinical features. Results: The incidence of hyperphenylalaninemia in Bahia was one case per 16,334 live births, covering 91% of them. Among patients followed, 82% were diagnosed by newborn screening and, in 11 families, there were more than one case. The classic phenotype of phenylketonuria was diagnosed in 63 (57%) patients. Among those screened, the median age at first consultation was 39.5 days. Among the patients, 34% had symptoms at the first medical consulta tion, none of them with delayed neurodevelopment. Consanguinity was reported in 32% of patients. Affected individuals were predominantly classified as white (63%). The parents had low education and low income. Among the 417 municipalities of Bahia, 15% had at least one case, with a concentration in the Northeast (10%) and in the capital of the State (14%). Conclusions: The results showed elevated age at the beginning of the treatment, which may compromise the program results. Presence of consanguinity and familial recurrence were also noted. Careful investigation of families searching for individuals with mental retardation of unknown etiology that would benefit from the treatment is important.

Hemoglobin A2 values in sickle cell disease patients quantified by high performance liquid chromatography and the influence of alpha thalassemia

Background In sickle cell disease, the quantification of Hb A2 is important for the differential diagnosis between sickle cell anemia (Hb SS) and Hb S/β0-thalassemia. Objective To determine Hb A2 levels as quantified by high performance liquid chromatography in patients with sickle cell anemia (Hb SS) and with the SC hemoglobinopathy, with or without concomitant alpha thalassemia. Methods This is a retrospective study of 242 children aged between two and six years with diagnoses of Hb SS or Hb SC. The hemoglobin was evaluated using high performance liquid chromatography and alpha thalassemia [3.7 kb deletion (−α3.7)] was detected by polymerase chain reaction. Patients were classified as homozygous (−α3.7/−α3.7), heterozygous (−α3.7/α), or homozygous wild-type. Analysis of variance was used to compare the mean Hb A2 values between the alpha thalassemia groups. Results The mean (± standard deviation) Hb A2 concentrations in the Hb SS group (n = 135) was 3.68 ± 0.65%. The mean values for individuals with Hb SS and heterozygous (n = 28) or homozygous for alpha thalassemia (n = 3) were 3.98 ± 0.64% and 4.73 ± 0.25%, respectively. The mean Hb A2 of all the Hb SC patients (n = 107) was 4.01 ± 0.507 with 4.29 ± 0.41% and 4.91 ± 0.22% in individuals heterozygous (n = 23) and homozygous for alpha thalassemia (n = 7), respectively. All patients homozygous for alpha thalassemia had Hb A2 levels above 3.5%. However, Hb A2 values above 5.2% were seen in patients with Hb SS and Hb SC, independently of alpha thalassemia. Conclusion Hb A2 levels are elevated in patients with Hb S or Hb C, and are directly influenced by the alpha thalassemia genotypes.

Breastfeeding and the anthropometric profile of children with sickle cell anemia receiving follow-up in a newborn screening reference service

OBJECTIVE: To study the breastfeeding history (BF) and the anthropometric status of children with Sickle Cell Disease (SCD). METHODS: A cross-sectional study of 357 children with SCD aged between 2 and 6 years, regularly followed at a Newborn Screening Reference Service (NSRS) between November 2007 and January 2009. The outcome was anthropometric status and the exposures were: BF pattern, type of hemoglobinopathy and childs age and gender. RESULTS: The mean (SD) age was 3.7 (1.1) years, 52.9% were boys and 53.5% had SCA (hemoglobin SS). The prevalence of exclusive breastfeeding (EBR) up to six months of age was 31.5%, the median EBR times (p25-p75) was 90.0 (24.0-180.0) days and the median weaning ages (p25-p75) was 360.0 (90.0-720.0) days respectively. Normal W/H children experienced EBR for a mean duration almost four times longer than malnourished children (p=0.01), and were weaned later (p<0.05). Height deficit was found in 5.0% of children, while all the children with severe short stature had had SCA (hemoglobin SS) and were older than 4 years of age. CONCLUSIONS: EBF time and weaning age were greater than that found in the literature, which is a possible effect of the multidisciplinary follow-up. Duration of EBF and later weaning were associated with improved anthropometric indicators.

Clinical and demographic aspects of phenylketonuria in Bahia State, Brazil

OBJETIVO: Describir las caracteristicas clinicas y demograficas de los pacientes con diagnostico de Hiperfenilalaninemia (HPA) seguidos en el Servicio de Referencia en Seleccion Neonatal de Bahia. METODOS: Estudio transversal incluyendo a 99 familias (111 afectados) con fenotipo bioquimico de HPA, con recoleccion de datos en prontuarios y en base de datos laboratorial, incluso aspectos demograficos y clinicos. Se realizo el analisis descriptivo de los datos utilizando promedios (desviacion estandar) y medianas (percentiles 25-75). RESULTADOS: La incidencia de HPA en Bahia fue de un caso a cada 16.334 nacidos vivos (NV), con cobertura de 90,8%. Entre los pacientes seguidos, el 82% fueron diagnosticados por la seleccion neonatal, y en 11 familias habia mas de un caso. El fenotipo clasico de la fenilcetonuria fue diagnosticado en 63 (56,8%) pacientes. Entre los seleccionados, la mediana de edad en la primera consulta fue de 39,5 dias (fenilcetonuria clasica) y, de ellos, el 34% presentaba sintomas en ese momento, ninguno de ellos con retraso en el desarrollo neuropsicomotor. La consanguinidad fue descrita en 32,2% de los casos y hubo predominio de pacientes clasificados como blancos (63%). Los padres tenian baja escolaridad y bajos ingresos. Entre los 417 municipios de Bahia, el 14,6% presentaba al menos un caso, con concentracion en la region nordeste (9,9%) y capital de la provincia (14,4%). CONCLUSIONES: Los resultados evidenciaron edad tardia al inicio del tratamiento, lo que puede comprometer los resultados del programa. Se observo, ademas, la presencia de consanguinidad y recurrencia familiar, reforzando la importancia de investigacion familiar para diagnosticar individuos con deficiencia mental de etiologia no aclarada que pueden beneficiarse de tratamiento.Objective: To describe demographic and clinical characteristics of patients with hyperphenylalaninemia followed at the Neonatal Screening Reference Service of Bahia, Brazil. Method: Cross-sectional study including 99 families (111 affected individuals) with biochemical phenotype of hyperphenylalaninemia by chart review and laboratory database that include demographic and clinical features. Results: The incidence of hyperphenylalaninemia in Bahia was one case per 16,334 live births, covering 91% of them. Among patients followed, 82% were diagnosed by newborn screening and, in 11 families, there were more than one case. The classic phenotype of phenylketonuria was diagnosed in 63 (57%) patients. Among those screened, the median age at first consultation was 39.5 days. Among the patients, 34% had symptoms at the first medical consulta tion, none of them with delayed neurodevelopment. Consanguinity was reported in 32% of patients. Affected individuals were predominantly classified as white (63%). The parents had low education and low income. Among the 417 municipalities of Bahia, 15% had at least one case, with a concentration in the Northeast (10%) and in the capital of the State (14%). Conclusions: The results showed elevated age at the beginning of the treatment, which may compromise the program results. Presence of consanguinity and familial recurrence were also noted. Careful investigation of families searching for individuals with mental retardation of unknown etiology that would benefit from the treatment is important.

Aspectos clínicos y demográficos de la fenilcetonuria en la provincia de Bahia - Brasil

OBJETIVO: Describir las caracteristicas clinicas y demograficas de los pacientes con diagnostico de Hiperfenilalaninemia (HPA) seguidos en el Servicio de Referencia en Seleccion Neonatal de Bahia. METODOS: Estudio transversal incluyendo a 99 familias (111 afectados) con fenotipo bioquimico de HPA, con recoleccion de datos en prontuarios y en base de datos laboratorial, incluso aspectos demograficos y clinicos. Se realizo el analisis descriptivo de los datos utilizando promedios (desviacion estandar) y medianas (percentiles 25-75). RESULTADOS: La incidencia de HPA en Bahia fue de un caso a cada 16.334 nacidos vivos (NV), con cobertura de 90,8%. Entre los pacientes seguidos, el 82% fueron diagnosticados por la seleccion neonatal, y en 11 familias habia mas de un caso. El fenotipo clasico de la fenilcetonuria fue diagnosticado en 63 (56,8%) pacientes. Entre los seleccionados, la mediana de edad en la primera consulta fue de 39,5 dias (fenilcetonuria clasica) y, de ellos, el 34% presentaba sintomas en ese momento, ninguno de ellos con retraso en el desarrollo neuropsicomotor. La consanguinidad fue descrita en 32,2% de los casos y hubo predominio de pacientes clasificados como blancos (63%). Los padres tenian baja escolaridad y bajos ingresos. Entre los 417 municipios de Bahia, el 14,6% presentaba al menos un caso, con concentracion en la region nordeste (9,9%) y capital de la provincia (14,4%). CONCLUSIONES: Los resultados evidenciaron edad tardia al inicio del tratamiento, lo que puede comprometer los resultados del programa. Se observo, ademas, la presencia de consanguinidad y recurrencia familiar, reforzando la importancia de investigacion familiar para diagnosticar individuos con deficiencia mental de etiologia no aclarada que pueden beneficiarse de tratamiento.Objective: To describe demographic and clinical characteristics of patients with hyperphenylalaninemia followed at the Neonatal Screening Reference Service of Bahia, Brazil. Method: Cross-sectional study including 99 families (111 affected individuals) with biochemical phenotype of hyperphenylalaninemia by chart review and laboratory database that include demographic and clinical features. Results: The incidence of hyperphenylalaninemia in Bahia was one case per 16,334 live births, covering 91% of them. Among patients followed, 82% were diagnosed by newborn screening and, in 11 families, there were more than one case. The classic phenotype of phenylketonuria was diagnosed in 63 (57%) patients. Among those screened, the median age at first consultation was 39.5 days. Among the patients, 34% had symptoms at the first medical consulta tion, none of them with delayed neurodevelopment. Consanguinity was reported in 32% of patients. Affected individuals were predominantly classified as white (63%). The parents had low education and low income. Among the 417 municipalities of Bahia, 15% had at least one case, with a concentration in the Northeast (10%) and in the capital of the State (14%). Conclusions: The results showed elevated age at the beginning of the treatment, which may compromise the program results. Presence of consanguinity and familial recurrence were also noted. Careful investigation of families searching for individuals with mental retardation of unknown etiology that would benefit from the treatment is important.