RESUMO
The objective of this study was to analyse the survival rate and cause of death in children with systemic lupus erythematosus (SLE) during the past 30 years in Chile. A retrospective analysis was performed between 1969 and 2000 on patients attending pediatric rheumatology centres in Santiago, Chile. Survival and causes of death in 31 children followed from 1969 to 1980 fulfilling the 1982 American College of Rheumatology criteria for SLE and treated with oral steroids were compared with 50 other patients who were treated with oral steroids and an aggressive treatment of IV bolus of cyclophosphamide (38 patients) and azathioprine (12 patients). Global survival at five and 10 years follow-up for the patients studied from 1969 to 1980 was 68 and 40%, respectively. During the second study period these values were significantly improved and global survival reached 95% at five years and 90% at 10 years follow-up (P < 0.05). Survival at 10 years follow-up for patients with lupus nephropathy increased from 28% (study period 1964-1980) to 86% (study period 1984-2000). Twelve children died (38%) during the 1964-1980 study period. The causes of death were six due to kidney failure, three due to infectious conditions and another three of unknown causes. During the 1980-2000 study period mortality reached 6% (three cases), two cases died of a lupus flare-up and one case due to infection. In the last three decades, we have seen an important increase in the survival of children with SLE, especially in those patients with renal involvement. Management with immunosuppressive drugs, such as IV cyclophosphamide or azathioprine has changed the prognosis in these children. These results demonstrate that our children with SLE increased their life expectancy but are now faced with new types of morbidity because of the sequelae related to the disease itself.
Assuntos
Lúpus Eritematoso Sistêmico/mortalidade , Adolescente , Criança , Chile/epidemiologia , Feminino , Seguimentos , Humanos , Imunossupressores/uso terapêutico , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Nefrite Lúpica/tratamento farmacológico , Nefrite Lúpica/mortalidade , Masculino , Prognóstico , Estudos Retrospectivos , Análise de SobrevidaRESUMO
BACKGROUND: DiGeorge anomaly, velocardiofacial syndrome and conotruncal anomaly face syndrome are part of a group of congenital malformations of the chromosome 22q11 microdeletion syndrome, since they share certain phenotypic features as well as a common genetic abnormality. The malformations include mild facial dysmorphic features, conotruncal heart defects, thymic and parathyroid hypoplasia or aplasia and cleft palate. AIM: To describe the initial clinical presentation of children with clinical and molecular diagnosis of 22q11 microdeletion. PATIENTS AND METHODS: Ten children (seven male) with the phenotypic features of 22q11 microdeletion syndrome are reported. Microdeletion was detected in peripheral lymphocytes by fluorescent in situ hybridisation (FISH) with the TUPLE-1 DNA probe. RESULTS: Two children had abnormal karyotypes, one of them had a visible deletion and another child had an unbalanced translocation inherited from his mother who had a balanced translocation between chromosomes 14 and 22. Two of the 10 patients had an anterior laryngeal web, a malformation infrequently described in this syndrome. Five patients had the diagnosis of DiGeorge anomaly, had a more serious clinical presentation and a higher early mortality. CONCLUSIONS: The high frequency of the 22q11 microdeletion syndrome, estimated at 1:5.000 newborns, and its variable presentations requires a high level of awareness for its early diagnosis and appropriate management of associated complications.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 22/genética , Síndrome de DiGeorge/genética , Criança , Pré-Escolar , Cromossomos Humanos Par 14/genética , Feminino , Humanos , Hibridização in Situ Fluorescente , Recém-Nascido , Cariotipagem , MasculinoRESUMO
Anti neutrophil cytoplasmic antibodies are associated to vasculitis and crescentic glomerulonephritis in adults. However, this association has been seldom reported in children. We report two girls aged 12 and 15 years old with ANCA + glomerulonephritis. Both were subjected to a percutaneous kidney biopsy. One girl had to enter a chronic hemodialysis program. The other patient recovered her renal function and after 12 months of treatment with steroids and cyclophosphamide microscopic hematuria and proteinuria persist but with normal kidney function. ANCA should be measured in children with vasculitis and glomerulonephritis.
Assuntos
Anticorpos Anticitoplasma de Neutrófilos/análise , Glomerulonefrite/imunologia , Biópsia , Criança , Ciclofosfamida/uso terapêutico , Esquema de Medicação , Feminino , Seguimentos , Glomerulonefrite/diagnóstico , Glomerulonefrite/tratamento farmacológico , Humanos , Imunossupressores/uso terapêutico , Prednisona/uso terapêuticoRESUMO
We report two women presenting with parathyroid cysts. A 20 years old woman presented with goiter and a cystic lesion in the left thyroid lobe was identified on ultrasound examination and CAT scan. The patient had hypercalcemia and elevated PTH levels. The content of the cyst, obtained by needle aspiration, had an extremely high PTH concentration. The patient was operated, removing the cyst and a remaining thymus. Pathological study confirmed the diagnosis of a parathyroid cyst. An 11 years old girl presented with a mass in the left thyroid lobe. An ultrasound examination disclosed the presence of a cystic nodule. The patient was otherwise asymptomatic and laboratory work up was normal. The patient was operated and pathological examination of the surgical piece revealed a parathyroid cyst.
Assuntos
Cistos/diagnóstico , Doenças das Paratireoides/diagnóstico , Adulto , Criança , Cistos/cirurgia , Feminino , Humanos , Doenças das Paratireoides/cirurgiaRESUMO
The course of systemic juvenile rheumatoid arthritis (JRA) and that of Still's disease in the adult is unpredictable. The clinical course of 14 patients with JRA and 7 adults with Still's disease 6 months after onset was classified into 4 forms according to the persistence of joint manifestations after the cessation of systemic signs. a) monocyclic systemic form (5 children and 2 adults); b) polycyclic systemic form (3 children and 1 adult); c) monocyclic chronic joint form (3 children and 2 adults) and d) polycyclic chronic joint form (3 children, 2 adults). Seven of the 21 patients (5 children and 2 adults) developed joint sequelae, 5 with the polycyclic chronic joint form and 2 with the monocyclic chronic joint form. None of the patients with systemic forms, mono or polycyclic, developed sequelae. Thus, the course of patients with JRA and Still's disease may be used to predict development of joint sequelae.
Assuntos
Artrite Juvenil/complicações , Doença de Still de Início Tardio/complicações , Adulto , Artrite Juvenil/diagnóstico , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Doença de Still de Início Tardio/diagnósticoRESUMO
Two patients with Di George syndrome are presented. Diagnosis was done at ages 4 months and 16 days respectively. Their main clinical symptoms were hypocalcemic convulsions, unusual facies (hyperthelorism, low set prominent ears, micrognathia, short philtrum) and cardiac malformations (vascular ring with right aortic arc, aberrant left innominated artery and ligamentum arteriosus in one of them and Tetralogy of Fallot with pulmonary valve atresia in the other). The first patient is now a 3.5 year old boy, his vascular ring was repaired and he has hypoparathyroidism but no clinical nor laboratory evidence of cellular immunodeficiency. The other patient had evidence of heart failure at her second week of life, she died at age sixteen days and, at necropsy, Fallot's tetralogy with pulmonary valve atresia, closed ductus arteriosus, histologically normal ectopic thymus and absent parathyroid glands were demonstrated. We postulate that these cases correspond to partial forms of Di George syndrome.
Assuntos
Síndrome de DiGeorge/diagnóstico , Anticorpos Monoclonais/imunologia , Pré-Escolar , Síndrome de DiGeorge/complicações , Síndrome de DiGeorge/imunologia , Diagnóstico Diferencial , Feminino , Humanos , Imunoglobulinas/sangue , Recém-Nascido , Masculino , Tetralogia de Fallot/complicaçõesRESUMO
Dermatomyositis was diagnosed at age 7 years to a fourteen year old female. The disease was unresponsive to high doses of prednisone, so she was treated with oral cyclophosphamide 0.8 mg.kg.day (25 mg.m2) but treatment was withheld after sixteen weeks because of hemorrhagic cystitis and changed to azathioprine for two years, which resulted in complete remission of dermatomyositis. Nevertheless silent microscopic hematuria persisted and chronic cystitis was demonstrated by cystoscopy and vesical biopsy at age 13 years. In this case chronic cystitis developed earlier and at lower doses of cyclophosphamide than in other previously reported cases.
Assuntos
Ciclofosfamida/efeitos adversos , Cistite/induzido quimicamente , Hemorragia/induzido quimicamente , Doenças da Bexiga Urinária/induzido quimicamente , Adolescente , Doença Crônica , Dermatomiosite/tratamento farmacológico , Feminino , Humanos , Fatores de TempoRESUMO
A study was done in 322 healthy, well nourished infants, 3 to 18 months old from day care centers of metropolitan Santiago, Chile, that were given BCG immunization in their neonatal period: 304 (94.4%) of them showed BCG scars and were included in a double blind open study, to determine the cutaneous responses to 2 TU and 10 TU tuberculin (PPD). There were no differences in the mean size of cutaneous reactions nor in percent positive responses (greater than or equal to 10 mm), but cutaneous reactions greater than or equal to 15 mm were more frequent in infants tested with PPD 10 TU. In 184 out of 304 infants (60.5%) tuberculin reactions were negative (less than or equal to 10 mm). Eighteen out of 322 infants (5.6%) that didn't show BCG scars were injected with PPD 2 TU: tuberculin reactions sized 6 to 9 mm were recorded in 3/18 of these infants but none of them attained 10 mm. Fifty five infants whose tuberculin reactions were 5 mm or less were retested: a booster effect was likely from the appearance of enhanced dermal response after a second tuberculin test done with the same or higher tuberculin strength than the first one in 12/47 of these infants with BCG scar (25%) and in only 1/8 such subjects without BCG scar.
Assuntos
Vacina BCG/administração & dosagem , Hipersensibilidade Tardia/etiologia , Teste Tuberculínico , Análise de Variância , Vacina BCG/imunologia , Feminino , Humanos , Lactente , MasculinoRESUMO
A retrospective study was done to evaluate bone marrow smears in seven children with systemic onset juvenile rheumatoid arthritis (JRA). Eosinophilia and monocytosis were found in all the patients and in five there also were increased proportions of mononuclear basophils. Anemia is common in this disease and erythroid hypoplasia was present in six cases. Four patients had increased numbers of plasma cells and three had histiocytes with hemophagocytic activity. We did not find hemophagocytosis, as reported before, in bone marrow smears of JRA patients.
Assuntos
Artrite Juvenil/patologia , Exame de Medula Óssea , Eosinofilia/patologia , Adolescente , Contagem de Células , Criança , Pré-Escolar , Humanos , Estudos RetrospectivosRESUMO
In a longitudinal study we have evaluated several immunological parameters in thirty three epileptic children and adolescents 4 to 14 years old treated with phenytoin, and matched normal controls. The patients had significantly lower levels than normal controls of IgA (153 +/- 89 vs 236 +/- 128 mg/dL p less than 0.001) and IgM (155 +/- 58 vs 217 +/- 105 mg/dL p less than 0.01). The decrease in serum IgA levels correlated with the length of treatment (r = 0.44, p less than 0.03). Eight of the patients had IgA deficiency. In 7 of these children, T lymphocytes subpopulations were determined. The results did not differ significantly from the matched controls.