RESUMO
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
OBJECTIVE: To describe the clinical and laboratory manifestations of childhood-onset systemic lupus erythematosus (SLE) at presentation. STUDY DESIGN: This retrospective French multicenter study involved 155 patients in whom SLE developed before the age of 16 years. Mean patient age at onset was 11.5 +/- 2.5 years (range, 1.5-16 years). The female to male ratio was 4.5. RESULTS: The most common initial manifestations were hematologic (72%), cutaneous (70%), musculoskeletal (64%), renal (50%), and fever (58%). Thirty-two percent of children had atypical symptoms, mainly including abdominal involvement in 26 patients, which lead to negative laparotomy results for presumed appendicitis. Severe renal, neurologic, hematologic, abdominal, cardiac, pulmonary, thrombotic, and/or cutaneous manifestations occurred within the first month after the diagnosis in 40% of patients. The mean erythrocyte sedimentation rate was 72 +/- 29 mm/h, and the mean C-reactive protein value 22 +/- 21 mg/L. Antinuclear antibodies an, anti-double stranded DNA antibodies, and low C3 or C4 level were retrieved in 97%, 93%, and 78 % of patients, respectively. CONCLUSION: Initial manifestations of childhood-onset SLE are diverse and often severe. The diagnosis of SLE should be promptly considered in any febrile adolescent with unexplained organ involvement, especially when associated with an increased erythrocyte sedimentation rate.
Assuntos
Lúpus Eritematoso Sistêmico/fisiopatologia , Criança , Pré-Escolar , Estudos Transversais , Feminino , França , Humanos , Lactente , Lúpus Eritematoso Sistêmico/diagnóstico , Masculino , Estudos Multicêntricos como Assunto , Estudos Retrospectivos , Distribuição por SexoAssuntos
Erros Inatos do Metabolismo dos Aminoácidos/complicações , Ciclosporina/uso terapêutico , Glucocorticoides/uso terapêutico , Histiocitose de Células não Langerhans/tratamento farmacológico , Imunossupressores/uso terapêutico , Lisina/urina , Pré-Escolar , Histiocitose de Células não Langerhans/complicações , Histiocitose de Células não Langerhans/genética , Humanos , Masculino , Metilprednisolona/uso terapêutico , Prednisona/uso terapêuticoRESUMO
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.
Assuntos
Leucemia Mielomonocítica Crônica/complicações , Síndrome de Noonan/complicações , Medula Óssea/química , Feminino , Humanos , Lactente , Recém-Nascido , Cariotipagem , Leucemia Mielomonocítica Crônica/diagnóstico , Masculino , Síndrome de Noonan/diagnóstico , Estudos Retrospectivos , Esplenomegalia/tratamento farmacológico , Esplenomegalia/etiologia , Trombocitopenia/diagnóstico , Trombocitopenia/etiologiaRESUMO
Three children with Kawasaki disease had liver biopsies because of evidence of hepatic disease. Cholangitis or bile duct injury and proliferation were found. Similar damage to the hepatic ductular system may explain the hydrops of the gallbladder sometimes seen in this disease.