RESUMEN
Mutations in the conserved telomere maintenance component 1 (CTC1) gene were recently described in Coats plus syndrome and in cerebroretinal microangiopathy with calcifications and cysts. Norrie disease protein (NDP) gene was found mutated in Norrie disease, in Familial Exudative Vitreoretinopathy, and in Coats syndrome. Here we describe a boy affected by Norrie disease who developed typical features of cerebroretinal microangiopathy with calcifications and cysts. Direct sequencing of the CTC1 and NDP genes in this patient shows the presence of compound heterozygosity for 2 mutations in CTC1 (c.775G>A, pV259M and a novel microdeletion c.1213delG) and a missense mutation in the NDP gene (c.182T>C, p.L61P). Based on these genetic findings and on the expression of both genes in endothelial cells, we postulate that microangiopathy might be a primary underlying pathologic abnormality in cerebroretinal microangiopathy with calcifications and cysts. This hypothesis is further supported by magnetic resonance imaging (MRI) data showing multiple minute calcifications in the deep gray nuclei and in terminal arteriolar zones.
Asunto(s)
Ataxia/genética , Neoplasias Encefálicas/genética , Calcinosis/genética , Quistes del Sistema Nervioso Central/genética , Proteínas del Ojo/genética , Leucoencefalopatías/genética , Espasticidad Muscular/genética , Mutación/genética , Proteínas del Tejido Nervioso/genética , Enfermedades de la Retina/genética , Convulsiones/genética , Proteínas de Unión a Telómeros/genética , Niño , Estudios de Asociación Genética , Humanos , MasculinoRESUMEN
Sixty-one patients affected by de Lange syndrome underwent a careful renal and urological evaluation including family and personal history, physical examination, urinalysis, renal tract ultrasonography, and serum creatinine. A voiding cystourethrography was performed in patients with urinary tract infections, in patients with renal ectopy, and in patients with small kidneys. Structural anomalies of the kidney and urinary tract were detected either by ultrasound or voiding cystourethrography in 25 patients (41%): absent or poor corticomedullary differentiation (N = 8; 13%), pelvic dilation (N = 6; 10%), vesicoureteral reflux (N = 5; 8%), small kidney (N = 3; 5%), isolated renal cyst (N = 3; 5%), and renal ectopia (N = 2; 3%). Renal function was normal in 52 patients (85%) but reduced in 9 patients (15%) with renal tract abnormalities. Overt proteinuria was disclosed in three patients with impaired renal function.
Asunto(s)
Síndrome de Cornelia de Lange/patología , Riñón/anomalías , Sistema Urinario/anomalías , Adolescente , Niño , Preescolar , Femenino , Tasa de Filtración Glomerular , Humanos , Riñón/fisiopatología , Masculino , Proteinuria/orinaAsunto(s)
Hipertensión , Coartación Aórtica/etiología , Monitoreo Ambulatorio de la Presión Arterial , Cardiomegalia/etiología , Niño , Preescolar , Estudios de Seguimiento , Humanos , Hipertensión/complicaciones , Hipertensión/diagnóstico , Hipertensión/epidemiología , Hipertensión/terapia , Hipertensión Renal/etiología , Lactante , Recién NacidoRESUMEN
BACKGROUND: Since good control of arterial hypertension is of paramount importance, the present study was carried out to evaluate blood pressure control in pediatric patients with hypertension receiving regular medical care. STUDY DESIGN: The charts of 80 hypertensive children receiving medical care were reviewed. Their antihypertensive medication had been stable during three or more separate clinic visits and during 3 or more months. Patients with office hypertension were excluded. RESULTS: Blood pressure values higher than the corresponding 95th centiles were noted in 20 of the 80 patients. Hypertension was systolic in seven, diastolic in four and both systolic and diastolic in nine patients. The number of prescribed antihypertensive drugs and the number of doses/day of prescribed antihypertensive drugs was similar in patients with good and in those with poor blood pressure control. Plasma creatinine was higher in patients with poor than in those with good blood pressure control. CONCLUSIONS: The present survey indicates that the goal of antihypertensive medication is not achieved in a noticeable number of pediatric patients with treated hypertension.
Asunto(s)
Antihipertensivos/uso terapéutico , Hipertensión/tratamiento farmacológico , Hipertensión/fisiopatología , Adolescente , Factores de Edad , Antihipertensivos/administración & dosificación , Presión Sanguínea/efectos de los fármacos , Niño , Creatinina/sangre , Diástole , Femenino , Humanos , Hipertensión Renal/tratamiento farmacológico , Hipertensión Renal/fisiopatología , Masculino , SístoleRESUMEN
Renal ultrasound scan, circulating creatinine and calcium, and the urinary calcium excretion rate were investigated in 57 patients with clinically and genetically typical Williams-Beuren syndrome (25 female and 32 male subjects, aged from 1.0 year to 23 years, median 8.5 years) on regular follow up at our institution. Twenty-three unilateral abnormalities were detected in 20 patients: pelvic dilatation ( n=6), renal hypoplasia ( n=5), isolated renal cyst ( n=3), kidney surface irregularity ( n=3), kidney duplication ( n=2), renal agenesis ( n=1), megaureter ( n=1), pelvic kidney dystopia ( n=1), and renal stone ( n=1). Both infantile hypercalcemia and nephrocalcinosis was absent in the 57 patients. Mild hypercalcemia was noted in 1 and mild hypercalciuria in 2 patients after the 1st year of life. In conclusion, the study indicates the frequent occurrence of intrinsic renal tract abnormalities detected by ultrasonography in Williams-Beuren syndrome. However, the study does not confirm the importance given in the past to the occurrence of hypercalcemia and hypercalciuria.