RESUMEN
The early diagnosis of Lowe's syndrome can be difficult. Urinary excretion of retinol binding protein (RBP) and the lysosomal enzyme N-acetyl-glucosaminidase (NAG) were significantly increased in boys with Lowe's syndrome. Measurement of these urine parameters is recommended in suspected cases.
Asunto(s)
Enfermedades Renales/fisiopatología , Túbulos Renales/fisiopatología , Síndrome Oculocerebrorrenal/fisiopatología , Acetilglucosaminidasa/orina , Niño , Preescolar , Ensayo de Inmunoadsorción Enzimática , Humanos , Lactante , Recién Nacido , Enfermedades Renales/orina , Síndrome Oculocerebrorrenal/orina , Proteínas de Unión al Retinol/orinaRESUMEN
BACKGROUND: The previous epidemiological study of paediatric nephrolithiasis in Britain was conducted more than 30 years ago. AIMS: To examine the presenting features, predisposing factors, and treatment strategies used in paediatric stones presenting to a British centre over the past five years. METHODS: A total of 121 children presented with a urinary tract renal stone, to one adult and one paediatric centre, over a five year period (1997-2001). All children were reviewed in a dedicated stone clinic and had a full infective and metabolic stone investigative work up. Treatment was assessed by retrospective hospital note review. RESULTS: A metabolic abnormality was found in 44% of children, 30% were classified as infective, and 26% idiopathic. Bilateral stones on presentation occurred in 26% of the metabolic group compared to 12% in the infective/idiopathic group (odds ratio 2.7, 95% CI 1.03 to 7.02). Coexisting urinary tract infection was common (49%) in the metabolic group. Surgically, minimally invasive techniques (lithotripsy, percutaneous nephrolithotomy, and endoscopy) were used in 68% of patients. CONCLUSIONS: There has been a shift in the epidemiology of paediatric renal stone disease in the UK over the past 30 years. Underlying metabolic causes are now the most common but can be masked by coexisting urinary tract infection. Treatment has progressed, especially surgically, with sophisticated minimally invasive techniques now employed. All children with renal stones should have a metabolic screen.
Asunto(s)
Cálculos Renales/epidemiología , Adolescente , Distribución por Edad , Niño , Preescolar , Femenino , Humanos , Incidencia , Lactante , Cálculos Renales/etiología , Cálculos Renales/cirugía , Masculino , Enfermedades Metabólicas/complicaciones , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , Estudios Retrospectivos , Factores de Riesgo , Distribución por Sexo , Infecciones Urinarias/complicacionesAsunto(s)
Enfermedades Renales/diagnóstico , Túbulos Renales Distales , Túbulos Renales Proximales , Acidosis Tubular Renal/diagnóstico , Acidosis Tubular Renal/genética , Síndrome de Bartter/diagnóstico , Síndrome de Bartter/genética , Niño , Diabetes Insípida Nefrogénica/diagnóstico , Diabetes Insípida Nefrogénica/genética , Síndrome de Fanconi/diagnóstico , Síndrome de Fanconi/genética , Humanos , Enfermedades Renales/genética , Enfermedades Renales/orina , Mutación/genética , Fenotipo , Seudohipoaldosteronismo/diagnóstico , Seudohipoaldosteronismo/genéticaRESUMEN
A 13-year-old boy with non-B12-responsive methylmalonic acidemia (MMA) had chronic renal failure. Hemodialysis led to symptomatic and biochemical improvement. He subsequently received a combined liver-kidney transplant. After 16 months of follow-up he has a normal lifestyle and a marked reduction in plasma and urine methylmalonate.
Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/cirugía , Fallo Renal Crónico/cirugía , Fallo Renal Crónico/terapia , Trasplante de Riñón , Trasplante de Hígado , Ácido Metilmalónico/sangre , Adolescente , Errores Innatos del Metabolismo de los Aminoácidos/complicaciones , Genes Recesivos , Humanos , Fallo Renal Crónico/etiología , Masculino , Metilmalonil-CoA Mutasa/deficiencia , Diálisis RenalRESUMEN
To evaluate the effect of long-term treatment with recombinant human GH (rhGH) on renal function in short children with nephropathic cystinosis with and without concomitant cysteamine treatment, 36 growth-retarded children with nephropathic cystinosis (age 7.3+/-2.7 y; creatinine clearance [C(CR)] 50+/-27 mL (min x 1.73 m2)(-1) were treated with 1 IU rhGH/kg/wk for up to 5 y. The rise in serum creatinine before and during rhGH treatment was compared with that in a historical control group of cystinotic patients. The effect of concomitant cysteamine treatment on the evolution of renal function before and after the start of rhGH was evaluated separately in patients without (group A) and with cysteamine treatment (group B). The decline of C(CR) was also compared with that in noncystinotic patients with chronic renal failure with and without rhGH treatment. At study entry, serum creatinine values in group A were similar to those in the historical controls, whereas group B had significantly lower serum creatinine values. Treatment with rhGH did not accelerate the rise in creatinine independently of cysteamine treatment. There were no significant differences in the mean decline of C(CR) per year in cystinotic compared with noncystinotic patients with chronic renal failure with or without rhGH treatment. rhGH therapy for up to 5 y does not accelerate the deterioration of renal function. This justifies the continuation of controlled studies of rhGH treatment in these patients. The study also provides further evidence that cysteamine therapy reduces the progression of renal failure in children with cystinosis.
Asunto(s)
Cistinosis/tratamiento farmacológico , Cistinosis/fisiopatología , Trastornos del Crecimiento/tratamiento farmacológico , Trastornos del Crecimiento/fisiopatología , Hormona de Crecimiento Humana/uso terapéutico , Riñón/fisiopatología , Niño , Creatinina/sangre , Cisteamina/uso terapéutico , Cistinosis/complicaciones , Femenino , Tasa de Filtración Glomerular , Trastornos del Crecimiento/complicaciones , Humanos , Pruebas de Función Renal , Masculino , Proteínas Recombinantes/uso terapéuticoAsunto(s)
Acidosis Tubular Renal/fisiopatología , Acil-CoA Deshidrogenasas/deficiencia , Errores Innatos del Metabolismo de los Aminoácidos/fisiopatología , Túbulos Renales/fisiopatología , Acidosis Tubular Renal/enzimología , Acidosis Tubular Renal/genética , Errores Innatos del Metabolismo de los Aminoácidos/enzimología , Errores Innatos del Metabolismo de los Aminoácidos/genética , Femenino , Glutaratos/orina , Humanos , LactanteAsunto(s)
Enfermedades Renales/genética , Enfermedades Renales/fisiopatología , Túbulos Renales/fisiopatología , Acidosis Tubular Renal/genética , Acidosis Tubular Renal/fisiopatología , Animales , Síndrome de Bartter/genética , Síndrome de Bartter/fisiopatología , Anhidrasas Carbónicas/deficiencia , Anomalías Congénitas/genética , Cistinuria/genética , Cistinuria/fisiopatología , Diabetes Insípida Nefrogénica/genética , Diabetes Insípida Nefrogénica/fisiopatología , Modelos Animales de Enfermedad , Síndrome de Fanconi/genética , Síndrome de Fanconi/fisiopatología , Femenino , Humanos , Hipofosfatemia Familiar/genética , Hipofosfatemia Familiar/fisiopatología , Túbulos Renales/anomalías , Masculino , Seudohipoaldosteronismo/genética , Seudohipoaldosteronismo/fisiopatología , SíndromeRESUMEN
Fifty-nine patients with cystinosis were treated with cysteamine or phosphocysteamine in the United Kingdom up to May 1990. Treatment was started at a median age of 3.2 years (range 0.6-24.8 years) and continued for a median duration of 3.0 years (range 0.01-1.2 years). At the end of the study, 46 (78%) patients remained on treatment. One patient developed end-stage renal failure and 6 died. Efficacy was assessed in the 44 pre-transplant patients. The United Kingdom pre-transplant patients had significantly lower plasma creatinine concentrations at 6 and 8 years than a historical group of patients who did not receive cysteamine (P < 0.0001 and P < 0.0003, respectively). There was no significant difference between pretreatment and final post-treatment height standard deviation scores, suggesting maintenance of growth rate. The leucocyte cystine concentration was less than the accepted upper limit of the treatment range (1 nmol 1/2 cystine/mg protein) in only 21% of determinations. There was no significant difference between the mean pre-treatment and final values of leucocyte cystine concentration. The mean final doses of cysteamine (33 mg/kg per day) and phosphocysteamine (37 mg/kg per day base equivalent) were less than the mean dose (51 mg/kg per day) used in a United States multicentre trial. We conclude that cysteamine treatment was beneficial, but further improvements might be achieved by an improvement in monitoring of therapy.
Asunto(s)
Cistafos/uso terapéutico , Cisteamina/uso terapéutico , Cistinosis/tratamiento farmacológico , Adolescente , Niño , Preescolar , Cistina/sangre , Cistinosis/mortalidad , Cistinosis/fisiopatología , Femenino , Crecimiento/efectos de los fármacos , Humanos , Lactante , Irlanda , Pruebas de Función Renal , Leucocitos/metabolismo , Masculino , Estudios Retrospectivos , Reino UnidoRESUMEN
We report an 18-month-old girl who presented in chronic renal failure after an illness characterised by protracted diarrhoea, poor weight gain and anaemia. There were no symptoms and signs suggestive of a renal Fanconi syndrome, but a diagnosis of nephropathic cystinosis was suggested by renal biopsy and confirmed by an elevated leucocyte cystine concentration. We suggest that the diagnosis of cystinosis should be considered in any child with chronic renal failure of unknown aetiology.
Asunto(s)
Cistinosis/complicaciones , Fallo Renal Crónico/etiología , Cistinosis/patología , Femenino , Humanos , Lactante , Riñón/patología , Fallo Renal Crónico/diagnóstico , Fallo Renal Crónico/patología , Macrófagos/inmunologíaAsunto(s)
Anomalías Múltiples/dietoterapia , Estatura/fisiología , Síndrome de Fanconi/dietoterapia , Almidón/uso terapéutico , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/fisiopatología , Síndrome de Fanconi/diagnóstico , Síndrome de Fanconi/fisiopatología , Estudios de Seguimiento , Enfermedad del Almacenamiento de Glucógeno/diagnóstico , Enfermedad del Almacenamiento de Glucógeno/dietoterapia , Enfermedad del Almacenamiento de Glucógeno/fisiopatología , Hepatomegalia/diagnóstico , Hepatomegalia/dietoterapia , Hepatomegalia/fisiopatología , Humanos , Lactante , Recién Nacido , Masculino , SíndromeRESUMEN
Diurnal variation in leucocyte cystine and the effects of equimolar single doses of oral phosphocysteamine and rectal cysteamine were studied in eight patients with cystinosis, aged 1.8-16.5 years. No significant diurnal variation in leucocyte cystine was found. Absorption of cysteamine was reduced after rectal administration compared with the oral dose: mean (SD) peak concentration 17.2 (6.3) mumol/l v 36.4 (5.5) mumol/l at 40 min and mean (SD) area under the curve 22.3 (14.3) v 59.4 (33.1) mumol/h/l. Oral phosphocysteamine significantly reduced the mean (SD) leucocyte cystine from 8.09 (0.47) to 3.26 (1.48) nmol 1/2 cystine/mg protein at three hours. At 12 hours the mean leucocyte cystine was significantly lower than the pretreatment concentration. Rectal cysteamine did not significantly reduce the mean leucocyte cystine concentration. In conclusion, phosphocysteamine suspension may be administered every 12 hours. Rectal cysteamine administration is feasible but higher doses are required before efficacy can be judged.
Asunto(s)
Cistafos/farmacocinética , Cisteamina/farmacocinética , Cistinosis/tratamiento farmacológico , Administración Oral , Administración Rectal , Adolescente , Niño , Preescolar , Ritmo Circadiano , Cistafos/administración & dosificación , Cisteamina/administración & dosificación , Cistina/sangre , Cistinosis/sangre , Cistinosis/metabolismo , Femenino , Humanos , Lactante , Leucocitos/metabolismo , Masculino , Factores de TiempoRESUMEN
Intraobserver and interobserver variability were calculated for the measurement of cerebral artery pulsatility indices by five observers who made two recordings on each of 12 stable preterm infants. Variations in pulsatility indices of up to 0.21 were found; no measurement was below 0.55.