RESUMO
DMT1 deficiency causes microcytic hypochromic anemia due to decreased erythroid iron utilization. Anemia is present from birth. Transferrin saturation is high and serum ferritin is mildly elevated, despite liver iron overload. DMT1 deficiency must be considered in the differential diagnosis of microcytic hypochromic anemia observed in the newborn period.
Assuntos
Anemia Hipocrômica/genética , Proteínas de Transporte de Cátions/genética , Genes Recessivos , Mutação , Anemia Hipocrômica/diagnóstico , Anemia Hipocrômica/tratamento farmacológico , Proteínas de Transporte de Cátions/deficiência , Diagnóstico Diferencial , Eritrócitos/metabolismo , Eritropoetina/uso terapêutico , Ferritinas/sangue , Genótipo , Humanos , Recém-Nascido , Quelantes de Ferro/uso terapêutico , Fenótipo , Transferrina/metabolismoRESUMO
OBJECTIVES: To study the frequency and risk factors of growth retardation (GR) in patients with Diamond-Blackfan anemia. STUDY DESIGN: A cross-sectional survey including the 95 patients followed by hematologists affiliated with the French Society of Pediatric Hematology and Immunology for whom growth data were available; 43 patients were transfusion dependent, 32 were steroid dependent, and 20 patients were off treatment. GR was defined as height below 2 SD. RESULTS: Growth retardation was observed in 29.5% (28) patients. The proportion of GR increased significantly with age (16% <10, 32% among 10 to 16, 47.6% among 17 to 25, 41.7% among >16 years) and was higher in on-treatment than in off-treatment patients (35% among transfusion-dependent, 37% among steroid-dependent vs 5% among off-treatment). GR was significantly linked to associated malformations (OR, 2.3 [1.1 to 8.0]; P = .02) and intrauterine growth retardation (OR, 6.0 [1.1 to 11.6]; P = .021). GR remained independently associated with age, malformations, and treatment in a logistic regression. CONCLUSIONS: Our study showed that the risk of GR increases with age and is associated with treatment dependence. This result addresses the question of the respective part, in the pathogenesis of GR, of the disease severity, illustrated by treatment dependence on the one hand and of the deleterious effects of long-term treatments on the other hand.
Assuntos
Anemia de Diamond-Blackfan/epidemiologia , Transtornos do Crescimento/epidemiologia , Adolescente , Adulto , Anemia de Diamond-Blackfan/terapia , Criança , Estudos Transversais , Feminino , França/epidemiologia , Humanos , Modelos Logísticos , Masculino , Análise Multivariada , Fatores de RiscoRESUMO
We report four cases of Noonan syndrome associated with chronic myelomonocytic leukemia in childhood. These children shared some hematologic features: thrombocytopenia, splenomegaly in the first months of life, occurrence of chronic myelomonocytic leukemia without abnormalities of the initial bone marrow karyotype, and, in three cases, improvement of the hematologic disease. A common pathophysiologic process in such patients is suggested.