RESUMO
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.
Assuntos
Doenças Renais Policísticas/epidemiologia , Fatores Etários , Anti-Hipertensivos/uso terapêutico , Pré-Escolar , Diagnóstico Diferencial , Genes Dominantes , Genes Recessivos , Humanos , Hipertensão Renal/tratamento farmacológico , Hipertensão Renal/etiologia , Lactente , Recém-Nascido , Doenças Renais Policísticas/diagnóstico , Doenças Renais Policísticas/genética , Prognóstico , Diálise Renal , Estudos RetrospectivosRESUMO
Cyclosporine and prednisone were used in combination to produce immunosuppression in 18 pediatric recipients of renal allografts. Ten children received cadaveric kidneys and eight received kidneys from living related donors. With a mean follow-up of 16.5 months (range 7 to 33 months), the patient survival rate is 100% (18 of 18) and the graft survival rate is 83% (15 of 18). Two grafts were lost for nonimmunologic reasons. Currently the group mean (+/- SE) serum creatinine concentration is 1.22 +/- 0.11 mg/dl and creatinine clearance is 69.3 +/- 4.79 ml/min/1.73 m2. Cyclosporine nephrotoxicity has not caused irreversible allograft injury nor led to graft loss in this population. The incidence of treated rejection episodes has been 39% (seven of 18). Only 39% (seven of 18) of children have required hospital readmissions since the initial transplant discharge. There have been no opportunistic infections. In the 15 children with functioning grafts, some linear growth has occurred in 10 of 11 prepubertal and two of four postpubertal patients. Cyclosporine and prednisone have constituted a safe, efficacious immunosuppressive regimen for pediatric renal allograft recipients. Longer follow-up will be necessary to confirm whether these advantages persist beyond 2 years.
Assuntos
Ciclosporinas/uso terapêutico , Transplante de Rim , Adolescente , Cadáver , Criança , Pré-Escolar , Creatinina/sangue , Ciclosporinas/administração & dosagem , Ciclosporinas/efeitos adversos , Quimioterapia Combinada , Seguimentos , Rejeição de Enxerto/efeitos dos fármacos , Crescimento , Humanos , Rim/fisiologia , Nefropatias/cirurgia , Prednisona/uso terapêutico , Doadores de TecidosAssuntos
Carcinoma/tratamento farmacológico , Hipoparatireoidismo/induzido quimicamente , Hipotireoidismo/induzido quimicamente , Doenças do Recém-Nascido/induzido quimicamente , Radioisótopos do Iodo/efeitos adversos , Troca Materno-Fetal , Neoplasias da Glândula Tireoide/tratamento farmacológico , Feminino , Humanos , Hipocalcemia/etiologia , Hipotireoidismo/tratamento farmacológico , Lactente , Recém-Nascido , Radioisótopos do Iodo/uso terapêutico , Fenobarbital/uso terapêutico , Gravidez , Primeiro Trimestre da Gravidez , Tiroxina/uso terapêutico , Traqueia/cirurgia , Traqueotomia/efeitos adversosRESUMO
A 7-year-old girl twice developed severe hypernatremia (serum sodium values up to 194 mEq/l) without obvious cause. The ability of her kidneys to conserve water was normal, and increasing her plasma osmolality stimulated an appropriate ADH response. Unable to excrete a water load, her kidneys continued to conserve water even with a serum sodium concentration of 133 mEq/l. She was never thirsty and did not ingest sufficient fluid by choice. Although there was no demonstrable anatomic lesion, we postulate a localized defect of her thirst center. This may have modified release of ADH and resulted in an inability to dilute the urine by interrupting a pathway that could exist from the thirst center to the supraoptic nuclei. A therapeutic regimen based on these studies has prevented further hypernatremia.