Congenital genitourinary abnormalities in children with Williams-Beuren syndrome.

OBJECTIVE: Williams-Beuren syndrome (WBS) is an autosomal dominant disorder caused by a gene deletion on chromosome 7q11.23. Patients with WBS usually show a group of features such as developmental delay, cardiovascular anomalies, mental retardation, and characteristic facial appearance. Abdominal wall defects, external genitalia anomalies, and structural abnormalities of the urinary tract have been scarcely evaluated and were the focus of our study. MATERIALS AND METHODS: We prospectively evaluated 41 boys and 38 girls with WBS, with a mean age of 8.8 ± 4.1 (range 3-19 years). All patients were examined for the evaluation of inguinal and umbilical hernias and genital anomalies. All patients were offered a radiological evaluation, including urinary tract ultrasound, voiding cystourethrogram, and dimercaptosuccinic acid renal scintigraphy (DMSA scan). RESULTS: Of the 41 boys, 30 (73.1%) had abnormalities on physical examination, including bilateral undescended testis in 13 (31.7%), retractile testis in four (9.7%), hypospadias in four (9.7%), and unilateral cryptorchidism in three (7.3%) patients. Of the 38 female subjects, 17 (44.7%) had at least one abnormality, including umbilical hernia in 11 (28.9%), unilateral inguinal hernia in four (10.5%), and bilateral inguinal hernia in three (7.8%) patients. Uroradiological abnormalities were found in 41 patients (51.9%). On sonography, six (7.6%) patients had unilateral hydronephrosis, three (3.8%) had a duplicated collecting system, and two (2.5%) had kidney stones. On DMSA, performed in 36 patients, four (11.1%) had unilateral renal scarring and two (5.5%) had bilateral renal scarring. Cystourethrography was obtained from 56 patients, of whom 27 (48.2%) had bladder diverticulum, 18 (32.1%) had bladder wall trabeculation, and three (5.3%) had vesicoureteral reflux. We found no association of urological abnormalities with cardiovascular defects. CONCLUSIONS: Patients with WBS have a high prevalence of abdominal wall, external genitalia, and urological abnormalities, emphasizing the importance of proper physical examination and radiological investigation in this population.

[Evaluation of factors associated with recurrent and/or severe infections in patients with Down's syndrome]. / Avaliação dos fatores associados a infecções recorrentes e/ou graves em pacientes com síndrome de Down.

OBJECTIVE: To evaluate epidemiological, clinical and laboratorial aspects of patients with Down syndrome, who present recurrent and/or severe infections, as well as to evaluate the presence of immunodeficiency in this population. METHODS: Patients with Down syndrome diagnosed by chromosome analysis with recurrent and/or severe infections, followed at the Allergy and Immunology Unit of Children's Institute from 1990 to 1999, were submitted to an epidemiological, clinical and laboratorial protocol, including immunological aspects. RESULTS: Sex distribution was 1.6 M:1 F, with age ranging from 1 to 12 years and 10 months (average = 2y7m). Forty patients reported recurrent infections and five, sepsis. Out of all patients with recurrent infection, 31 fulfilled the repeated infection criteria, with pneumonia and rhinopharyngitis as the most common infections. Congenital heart diseases were found in 62.2% of cases, more frequent in the repeated pneumonia group. Immunological evaluation showed two cases with IgG2 deficiency, two with low lymphocytes CD4+ count, and two cases with reduced blastogenic response to mitogens. Five cases had reduced NK cells function. Seropositivity for CMV was found in 22 of 36 cases analyzed (61.1%). CONCLUSIONS: Although the data found in this study are valid for this specific population, the authors point out the necessity of the immunodeficiency research in Down syndrome patients with maintenance of infection besides the appropriated control of associated diseases.

Avaliação dos fatores associados a infecções recorrentes e/ou graves em pacientes com síndrome de Down / evaluation of factors associated with recurrent and/or severe infections in patients with Down's syndrome

Objetivos: avaliar as características epidemiológicas, clínicas e laboratoriais de pacientes com síndrome de Down e infecções recorrentes e/ou graves, bem como avaliar a presença de imunodeficiência nesta população. Métodos: foram avaliados, através de protocolo epidemiológico, clínico e laboratorial, incluindo aspectos imunológicos, pacientes com diagnóstico de síndrome de Down, através de estudo cromossômico, com queixa de infecções recorrentes e/ou graves, acompanhados no Ambulatório de Alergia e Imunologia do Departamento de Pediatria da FMUSP, no período de 1990 a 1999. Resultados: a distribuição entre sexos foi 1,6M : lF, com idade variando entre um ano e 12 anos e 10 meses (média de 2a7m). Do total de 45 casos avaliados, 40 referiam infecções recorrentes, e cinco, sepse. Dos pacientes com infecções recorrentes, 31 preenchiam os critérios adotados de infecção de repetição, sendo as pneumonias e as rinofaringites as infecções mais referidas. Cardiopatias foram encontradas em 62,2por cento dos casos, sendo mais prevalentes nas crianças com pneumonias de repetição. Quanto aos parâmetros imunológicos, encontrou-se dois casos com deficiência de IgG2, dois com baixo número de linfócitos CD4+, e outros dois com redução de resposta