RESUMEN
Cartilage-hair hypoplasia is a chondrodysplasia with a high incidence of Hirschsprung disease. This study suggests that Hirschsprung disease is associated especially with severe cartilage-hair hypoplasia: the patients with Hirschsprung disease had severe growth failure and a higher incidence of alopecia, infections, malignancies, and childhood anemia than the patients with cartilage-hair hypoplasia who did not have Hirschsprung disease.
Asunto(s)
Exostosis Múltiple Hereditaria/complicaciones , Cabello/anomalías , Enfermedad de Hirschsprung/complicaciones , Femenino , Crecimiento , Enfermedad de Hirschsprung/fisiopatología , Humanos , Recién Nacido , MasculinoRESUMEN
OBJECTIVE: Cartilage-hair hypoplasia (CHH), a metaphyseal chondrodysplasia, is usually associated with impaired cellular immunity. This study evaluates humoral immunity in patients with CHH. METHODS: The concentrations of immunoglobulins G, A, and M (IgG, IgA, and IgM) and IgG subclasses were studied in 20 patients. Data for 5 additional patients with recurrent infections were retrospectively reviewed. RESULTS: Seven of the prospectively evaluated patients (35%) had defective humoral immunity. Three patients had IgA deficiency. Four patients had IgG2 deficiency, accompanied by IgA deficiency, IgG4 deficiency, or both in 3 patients. IgG4 was low in most patients. Increased infections were usually associated with supranormal IgG and IgG1 and subnormal IgA, IgG2, or IgG4 concentrations. One retrospectively reviewed patient had severe hypogammaglobulinemia, and 3 had multiple IgG subclass deficiencies. CONCLUSIONS: Humoral immunity is impaired in CHH and contributes to the increased susceptibility to infections.
Asunto(s)
Enfermedades de los Cartílagos/inmunología , Enfermedades del Cabello/inmunología , Deficiencia de IgA/complicaciones , Deficiencia de IgG/complicaciones , Inmunoglobulina M/deficiencia , Adolescente , Enfermedades de los Cartílagos/sangre , Niño , Preescolar , Enfermedades del Cabello/sangre , Humanos , Deficiencia de IgA/sangre , Deficiencia de IgG/sangre , Inmunoglobulina M/sangre , Lactante , Infecciones/epidemiología , Infecciones/inmunología , Estudios Prospectivos , Estudios RetrospectivosRESUMEN
OBJECTIVE: Previous reports have suggested an increased risk of cancer among patients with cartilage-hair hypoplasia (CHH). This study was carried out to further evaluate this risk among patients with CHH and their first-degree relatives. STUDY DESIGN: One hundred twenty-two patients with CHH were identified through 2 countrywide epidemiologic surveys in 1974 and in 1986. Their parents and nonaffected siblings were identified through the Population Register Center. This cohort underwent follow-up for cancer incidence through the Finnish Cancer Registry to the end of 1995. RESULTS: A statistically significant excess risk of cancer was seen among the patients with CHH (standardized incidence ratio 6.9, 95% confidence interval 2.3 to 16), which was mainly attributable to non-Hodgkin's lymphoma (standardized incidence ratio 90, 95% confidence interval 18 to 264). In addition, a significant excess risk of basal cell carcinoma was seen (standardized incidence ratio 35, 95% confidence interval 7.2 to 102). The cancer incidence among the siblings or the parents did not differ from the average cancer incidence in the Finnish population. CONCLUSIONS: This study confirms an increased risk of cancer, especially non-Hodgkin's lymphoma, probably attributable to defective immunity, among patients with CHH.
Asunto(s)
Cartílago/anomalías , Cabello/anomalías , Síndromes de Inmunodeficiencia/epidemiología , Neoplasias/epidemiología , Adolescente , Adulto , Niño , Estudios de Cohortes , Intervalos de Confianza , Femenino , Finlandia/epidemiología , Estudios de Seguimiento , Humanos , Síndromes de Inmunodeficiencia/genética , Incidencia , Masculino , Persona de Mediana Edad , Neoplasias/genética , Sistema de Registros/estadística & datos numéricos , Factores de RiesgoRESUMEN
OBJECTIVE: To study the growth and its correlates in diastrophic dysplasia (DTD) and to construct standard growth curves for DTD. METHODS: Growth data of 121 Finnish patients with DTD were collected. Percentile growth curves for height and relative weight were constructed by using interpolated values from individual curves. Pubertal growth, intrafamilial variability, and correlates of adult height were assessed. RESULTS: The median adult height was 135.7 cm for the male and 129.0 cm for the female subjects. The growth failure was progressive partly because of absent or weak pubertal growth spurt. The severity of the growth failure varied greatly, even among siblings. The final height did not correlate with the midparental height but correlated well with the height at 1.0 and 5.0 years. The relative weight was normal in childhood but increased before puberty; 28% of the adults were overweight. Head circumference was normal. CONCLUSIONS: DTD interferes profoundly with normal growth and results in progressive growth failure of varying severity. The growth charts should prove useful in following up an individual patient with DTD; they may be used to predict adult height and to evaluate growth-promoting therapies.