RESUMO
We report a 12-years-old Romanian boy with a diagnosis of diabetes and renal insufficiency. Mutations in homeodomain-containing transcription factor hepatocyte nuclear factor (HNF-1ß) have been reported in association with maturity-onset diabetes of the young (MODY 5) and early maturity-onset diabetes, progressive non-diabetic renal dysfunction and bilateral renal cysts. We found a new heterozygous mutation in HFN-1ß located in the exon 3 (c.715 G>C; p.239R) associated to pancreatic calcifications. The importance of molecular diagnosis of MODY patients is reinforced and the need for a careful follow-up is stressed in order to monitor the progression of clinical manifestations and its correlation with the gene mutation.
Assuntos
Calcinose/genética , Diabetes Mellitus/genética , Fator 1-beta Nuclear de Hepatócito/genética , Doenças Renais Císticas/genética , Hepatopatias/genética , Pancreatopatias/genética , Insuficiência Renal/genética , Calcinose/diagnóstico , Calcinose/diagnóstico por imagem , Criança , Heterozigoto , Humanos , Itália , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/diagnóstico por imagem , Masculino , Mutação , Pancreatopatias/diagnóstico , Pancreatopatias/diagnóstico por imagem , Radiografia , Insuficiência Renal/diagnóstico , SíndromeRESUMO
UNLABELLED: We report on a 15-y-old adolescent boy affected by silent coeliac disease, abnormalities in glycoregulation and with autoantibodies specific to diabetes mellitus type 1 (ICA: islet cell antibodies) and GAD 65 (autoantibodies against glutamic acid decarboxylase), in whom normalization of glycoregulation and disappearance of the immunological markers of pre-diabetes were observed after 6 mo on a gluten-free diet. The patient was followed-up for 36 mo and showed a normal insulin response to an intravenous glucose tolerance test and no markers of autoimmunity. It is possible that undiagnosed coeliac disease over a long period could lead to a direct autoimmune mechanism against pancreatic beta cells. CONCLUSION: Our findings seem to confirm the theory that undiagnosed coeliac disease can induce an autoimmune process against the pancreatic beta cells and that, following a gluten-free diet, the immunological markers for diabetes mellitus type 1 will disappear.
Assuntos
Autoimunidade , Doença Celíaca/imunologia , Diabetes Mellitus Tipo 1/imunologia , Adolescente , Doença Celíaca/dietoterapia , Glutens/administração & dosagem , Humanos , MasculinoAssuntos
Condroblastoma/complicações , Neoplasias Femorais/complicações , Articulação do Joelho , Dor/etiologia , Adolescente , Fatores Etários , Condroblastoma/diagnóstico , Condroblastoma/cirurgia , Epífises , Neoplasias Femorais/diagnóstico , Neoplasias Femorais/cirurgia , Seguimentos , Humanos , Masculino , Fatores de TempoRESUMO
The von Willebrand factor pseudogene, previously mapped to chromosome 22, was sublocalized by in situ hybridization using as probe a von Willebrand factor cDNA fragment completely contained in the pseudogenic region. Chromosome spreads were from a patient carrying a unique balanced de novo translocation 46,X,t(X;22)(pter;q11.21). Silver grain analysis indicated that the human von Willebrand factor pseudogene is located on 22q,11,22-q11,23, a region relevant for several somatic and constitutional chromosomal alterations.
Assuntos
Cromossomos Humanos Par 22 , Pseudogenes , Translocação Genética , Cromossomo X , Fator de von Willebrand/genética , Pré-Escolar , Bandeamento Cromossômico , Mapeamento Cromossômico , DNA/genética , Feminino , Humanos , Cariotipagem , Hibridização de Ácido NucleicoRESUMO
Goltz syndrome or focal dermal hypoplasia is a hereditary disorder, is a rare mesodermal hypoplasia found primarily in females. It is characterized by linear hypoplasia of the skin and tumors of fat or lipomatous lesions. There are significant defects of the skeleton, dental structures, eyes, soft tissues and skin. In our work an example of new-born female with this syndrome is reported, and a review of 136 cases from the literature is presented.