RESUMO
We report a Brazilian girl who was diagnosed as having galactosialidosis (deficiency of protective protein/cathepsin A; PPCA deficiency; GS) at the age of 2 years 6 months during an extensive investigation for renal failure. She was found to have low levels of both ß-galactosidase and α-neuraminidase in fibroblasts and to be a carrier of two novel mutations in the PPGB gene (p.G57V and p.R396W). She received a renal allograft at the age of 3 years 4 months. Transplantation was successful and graft function remains excellent after 6 years. However, the patient shows signs of progression of her primary disease. To our knowledge, she is the first GS patient to be given renal transplantation worldwide. We propose that renal transplantation should be considered as a therapeutic option for the treatment of severe renal complications of GS.
Assuntos
Falência Renal Crônica/cirurgia , Transplante de Rim , Doenças por Armazenamento dos Lisossomos/complicações , Brasil , Catepsina A/genética , Criança , Pré-Escolar , Progressão da Doença , Feminino , Predisposição Genética para Doença , Sobrevivência de Enxerto , Humanos , Falência Renal Crônica/diagnóstico , Falência Renal Crônica/etiologia , Transplante de Rim/efeitos adversos , Doadores Vivos , Doenças por Armazenamento dos Lisossomos/diagnóstico , Doenças por Armazenamento dos Lisossomos/genética , Mutação , Fenótipo , Fatores de Tempo , Resultado do TratamentoRESUMO
We describe a patient who was evaluated because of delayed development. The patient had microcephaly and cafe-au-lait spots and the facial features included upward slanting of the palpebral fissures, short nasal bridge and a highly arched palate. In addition the external ears had bilateral over folded helices, there was clinodactyly of the fourth and fifth fingers and multiple cafe-au-lait spots on the back, buttocks and thighs. Chromosomal analysis of peripheral blood showed 46,XY,-r(12)(p13.3q24.33)[73]/45,XY,-12[8]/47,XY,r(12)(p13.3q24.33),+r(12)(p13.3q24.33)[2]. This is the eighth case of a patient with a ring chromosome 12 to be reported so far. The similarity of our patient to those previously described suggests that the ring chromosome 12 syndrome can be delineated as a distinct entity with characteristic clinical features.
Assuntos
Anormalidades Múltiplas/genética , Manchas Café com Leite/patologia , Cromossomos Humanos Par 12/genética , Microcefalia/patologia , Cromossomos em Anel , Anormalidades Múltiplas/patologia , Criança , Bandeamento Cromossômico , Deficiências do Desenvolvimento/patologia , Orelha/anormalidades , Dedos/anormalidades , Humanos , Cariotipagem , Masculino , SíndromeRESUMO
We report on two daughters, born to consanguineous parents, who had severe mental retardation, microcephaly, retinal pigmentary degeneration, and spastic cerebral palsy. We think that this syndrome is the same as that described by Mirhosseini et al [1972] (McK-26805). The presence of consanguinity favors the hypothesis of autosomal recessive inheritance.
Assuntos
Anormalidades Múltiplas/genética , Deficiência Intelectual/genética , Microcefalia/genética , Degeneração Retiniana/genética , Adolescente , Paralisia Cerebral/genética , Criança , Consanguinidade , Feminino , Humanos , Linhagem , SíndromeRESUMO
We report on a case of inborn errors of metabolism in association with extensive mongolian spots. We suggest that this association may be due to a disequilibrium of metabolism during embryonic development.
Assuntos
Erros Inatos do Metabolismo/complicações , Transtornos da Pigmentação/etiologia , Humanos , Recém-Nascido , Masculino , Erros Inatos do Metabolismo/genética , Mucopolissacaridose I/complicações , Mucopolissacaridose I/genética , Transtornos da Pigmentação/genéticaRESUMO
We studied 58 childhood B-lineage acute lymphoblastic leukemia (B-ALL) in Brazilian sample patients at the time of diagnosis to investigate the prevalence of the cryptic t(12;21)(p13;q22). All bone marrow specimens were G-band karyotyped, and commercial dual-color DNA probes were used to search for fusion signals in nuclei. The karyotype analysis showed hyperdiploidy as the most frequent abnormality. The frequency of patients with TEL/AML1 gene fusion was 19% (11 out of 58 cases). Six of the positive samples had normal karyotypes. Deletion of the wild-type TEL allele was observed in 27.3% of TEL/AML1 fusion-positive cases, but it was also identified in 4.2% of the negative cases. Three cases presented two fusion signals, indicating possible duplication of the der(21). The mean age of the patients with TEL/AML1 fusion was 4.8 years and the mean amount of peripheral leukocytes was 44,270 x 10(6)/L. The higher frequency of females with B-ALL (33/58 cases) observed in our sample was probably due to the selection mode of the study cases. The prevalence of TEL/AML1 fusion in Brazilian children in our study is similar to that found in other populations.
Assuntos
Linfoma de Burkitt/genética , Proteínas de Fusão Oncogênica/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Brasil , Criança , Cromossomos Humanos Par 12 , Cromossomos Humanos Par 21 , Subunidade alfa 2 de Fator de Ligação ao Core , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Sondas Moleculares , Ploidias , Translocação GenéticaRESUMO
The 8;21 translocation in acute myeloid leukemia (AML) results in a consistent fusion transcript, AML1/ETO. Long-term clinical remission occurs in some patients despite incomplete eradication of AML1/ETO as demonstrated by RT-PCR, thus limiting the usefulness of this assay. An important future goal will be to determine if there is a level of minimal residual disease (MRD) in patients below which relapse is unlikely. For the detection of MRD, we have developed reagents for fluorescence in situ hybridization (FISH) that identify both derivative 8 and 21 chromosomes with a high analytical sensitivity. In t(8;21) AML cells, two fused signals were detected in addition to the normal 8 and 21 alleles. The sensitivity and specificity of this probe mixture were analyzed in cell lines and patient bone marrows. One and two randomly juxtaposed signals were observed in 2.4 and 0.04% of normal cells, respectively. However, these were easily differentiated from t(8;21) cells by the absence of signals from the normal alleles. Using as criteria the presence of two fused signals plus the normal alleles, we observed no false positives among 5,000 normal cells. The probe correctly identified 20/20 patients with t(8;21) AML and 10/10 non-t(8;21) patients. In cell dilution experiments, the analytical sensitivity of this reagent was equal to that of the X chromosome and Y chromosome alpha-satellite probes. These optimized probes should facilitate the quantitative assessment and study of MRD in t(8;21) AML.
Assuntos
Cromossomos Humanos Par 21/genética , Cromossomos Humanos Par 8/genética , Sondas de DNA , Corantes Fluorescentes , Leucemia Mieloide Aguda/genética , Neoplasia Residual/genética , Proteínas de Fusão Oncogênica , Translocação Genética , Células da Medula Óssea/patologia , Mapeamento Cromossômico , Subunidade alfa 2 de Fator de Ligação ao Core , Humanos , Hibridização in Situ Fluorescente , Leucemia Mieloide Aguda/diagnóstico , Neoplasia Residual/diagnóstico , Proteína 1 Parceira de Translocação de RUNX1 , Proteínas Recombinantes de Fusão/análise , Proteínas Recombinantes de Fusão/genética , Sensibilidade e Especificidade , Fatores de Transcrição/análise , Fatores de Transcrição/genéticaRESUMO
Descreve-se uma crianca do sexo feminino com trissomia parcial do 14. O cariotipo 47,XX, + der(14), t(9;14) (p24;q24)mat e o resultado da disjuncao meiotica 3:1 na mae heterozigota 46,XX, t(9;14) (9qter-9p24: :14q24-14qter;14pter-14 a 24: 9p24-pter), que teve dois abortos espontaneos previos.E feita uma revisao dos casos ja descritos discutindo-se as semelhancas clinicas