RESUMEN
We report the case of a patient with infantile nephropathic cystinosis who required renal transplantation at age 30 months. Exhaustive evaluation did not identify a cause of progressive renal failure other than cystinosis. The patient's genetic lesion was allelic with those of other patients with cystinosis; fusion of this patient's fibroblasts with fibroblasts from another patient with infantile nephropathic cystinosis did not demonstrate complementation of the biochemical defect.
Asunto(s)
Cistinosis/complicaciones , Fallo Renal Crónico/etiología , Células Clonales , Cistina/análisis , Cistinosis/genética , Cistinosis/patología , Femenino , Fibroblastos/química , Humanos , Lactante , Riñón/químicaRESUMEN
To determine the frequency of autosomal recessive and autosomal dominant polycystic kidney disease (PKD) in infants and to compare the rate of progression of these conditions, we conducted a retrospective survey of 48 patients who were seen with PKD before 1 year of age and who survived the first month of age. Seventeen patients had recessive PKD; six had dominant PKD. Eighteen patients had insufficient data to categorize the type of PKD with certainty. Seven patients were classified as "other"; three had glomerulocystic disease and the remainder had multiple malformation syndromes or tuberous sclerosis. Renal ultrasonography and excretory urography accurately detected 15 of 17 patients with recessive PKD, but only one patient with dominant PKD was correctly diagnosed by excretory urography. The majority of patients in all groups required antihypertensive therapy. The 17 children with recessive PKD have been followed up for 6.1 +/- 4.3 (SD) years. Eight patients are doing well. Two patients have died; five others have required treatment for renal failure. Only one patient has an estimated glomerular filtration rate within the normal range after 6 years of age. Long-term evaluation of most of the patients with dominant PKD is not yet available; however, by age 42 months one patient has required dialysis. To provide optimum genetic counseling and accurate diagnosis for patients with PKD, a combination of careful family evaluation, radiography, and liver or kidney biopsy is required. The outcome of patients who survive the neonatal period appears not to be so grim as previously feared, underscoring the importance of aggressive supportive care and the need for physician and family education.
Asunto(s)
Enfermedades Renales Poliquísticas/epidemiología , Factores de Edad , Antihipertensivos/uso terapéutico , Preescolar , Diagnóstico Diferencial , Genes Dominantes , Genes Recesivos , Humanos , Hipertensión Renal/tratamiento farmacológico , Hipertensión Renal/etiología , Lactante , Recién Nacido , Enfermedades Renales Poliquísticas/diagnóstico , Enfermedades Renales Poliquísticas/genética , Pronóstico , Diálisis Renal , Estudios RetrospectivosRESUMEN
Serial determinations, using plasma fibrinogen gel chromatography as well as standard methodology, demonstrated that six children with severe glomerulonephritis, characterized on renal biopsy by glomerular necrosis and crescent formation, had persistent evidence of intravascular coagulation. Based on these observations, therapy with anticoagulants and azathicoagulants and azathioprine was instituted for one year; treatment with anticoagulants was continued for a second year. Anticoagulant therapy was initiated with heparin, followed by oral anticoagulation with phenindione and dipyridamole. In contrast to our earlier experience with similar patients, each of the present patients improved. Urinalyses returned to normal and glomerular filtration rates to near normal values in all patients at the end of the treatment period and have remained so for up to 3.9 years since treatment has been completed. Post-treatment biopsies showed remarkable improvement, with virtually no glomerulosclerosis even in patients who had had a high incidence of glomerular crescents before treatment. It is suggested that the therapeutic regimen favorably influenced the natural history of disease and that plasma fibrinogen chromatographic findings may be helpful in selecting patients likely to benefit from the use of anticoagulant therapy.
Asunto(s)
Anticoagulantes/uso terapéutico , Coagulación Intravascular Diseminada/etiología , Glomerulonefritis/complicaciones , Inmunosupresores/uso terapéutico , Enfermedad Aguda , Adolescente , Anticoagulantes/efectos adversos , Azatioprina/uso terapéutico , Niño , Coagulación Intravascular Diseminada/diagnóstico , Coagulación Intravascular Diseminada/tratamiento farmacológico , Coagulación Intravascular Diseminada/orina , Femenino , Productos de Degradación de Fibrina-Fibrinógeno/metabolismo , Productos de Degradación de Fibrina-Fibrinógeno/uso terapéutico , Tasa de Filtración Glomerular/efectos de los fármacos , Glomerulonefritis/tratamiento farmacológico , Glomerulonefritis/orina , Heparina/farmacología , Heparina/uso terapéutico , Humanos , Inmunoglobulina G , Inmunosupresores/efectos adversos , MasculinoRESUMEN
Eight patients with severe glomerulonephritis and an average inulin clearance of 21.7 ml/min/1.73 m2 body surface were treated with high-dosage intravenous methylprednisolone, 30 mg/kg given over a one-hour period on each of six alternate days. The mean inulin clearance rate doubled after this "pulse" therapy. In the six patients treated early in the course of their disease, GFR increased to a mean of 100.2 ml/min/1.73 m2 during the follow-up period extending for up to three years and was accompanied by clinical improvement. These observations suggest that "pulse" methylprednisolone may be beneficial in treating some patients with potentially life-threatening severe glomerulonephritis.