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
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.
Assuntos
Ductos Biliares Intra-Hepáticos/patologia , Colangite/etiologia , Síndrome de Linfonodos Mucocutâneos/complicações , Biópsia , Criança , Pré-Escolar , Colangite/patologia , Humanos , Testes de Função Hepática , Síndrome de Linfonodos Mucocutâneos/patologiaRESUMO
We have observed two types of paucity of interlobular bile ducts (PILBD) in children with chronic cholestasis: the syndromic type, which is more frequent (80 cases), and the nonsyndromic type (31 cases). Study of patients with syndromic PILBD has enabled us to recognize five major features: peculiar facies (95%), chronic cholestasis (91%), posterior embryotoxon (88%), butterfly-like vertebral arch defects (87%), and peripheral pulmonary artery hypoplasia or stenosis, either isolated or associated with complex cardiovascular abnormalities (85%). By observing these major features, it is possible to differentiate the "complete" syndrome, in which all five features are present (26 cases), from the "partial" syndrome, in which only four (42 cases) or three (12 cases) major features are present. Other less frequent features were observed in patients with complete or partial syndrome: growth retardation (50%), mental retardation (16%), renal disturbances, other vascular malformations, bone abnormalities, high-pitched voice, and delayed puberty. Death occurred in 21 (26%) patients with syndromic PILBD. Therapy consisted of supplementation of medium-chain triglycerides and fat-soluble vitamins and administration of cholestyramine or phenobarbital. An autosomal dominant mode of transmission, with variable penetrance, seems likely.
Assuntos
Ductos Biliares Intra-Hepáticos/anormalidades , Anormalidades Cardiovasculares , Criança , Pré-Escolar , Colestase/fisiopatologia , Face/anormalidades , Humanos , Lactente , Coluna Vertebral/anormalidades , SíndromeRESUMO
Among 30 children with hepatic ductular hypoplasia and normal extrahepatic bile ducts, 15 formed a hemogeneous, readily recognizable group. In addition to chronic cholestasis, they have characteristic facies, a mesosystolic murmur, vertebral arch defects, growth retardation, mental retardation, and hypogonadism. Typical biochemical and histologic features aid in differentiation of this group from patients with other varieties of biliary disease.