RESUMEN
Twenty-one patients with nephronophthisis are described with a follow-up of one to 16 years (mean 9.3 years). In 10 patients, there was a familial incidence. Autosomal recessive appears the likely mode of inheritance with a 20 per cent incidence noted (seven of 35) following correction for the bias of ascertainment by removing the probands. Seven patients had an associated and characteristic retinal degeneration from infancy. Associated neurologic problems, including mental retardation, seizures and cerebellar ataxis, were also seen in some patients. Previously described skeletal abnormalities and hepatic fibrosis were not seen in any of our patients. All presented at an advanced stage of chronic renal failure, usually associated with a history of polydipsia and polyuria from infancy. Renal cysts were noted in only one of the nine patients in whom tissue was obtained by needle biopsy. In seven patients in whom tissue was available at nephrectomy or autopsy, cysts were noted in six although only in two were they localized to the medulla. Eighteen patients have undergone dialysis, and 12 patients have received a renal transplant with no evidence of recurrence of the original disease. Sixteen patients are still alive. Many synonyms for nephronophthisis have appeared, with medullary cystic disease being the most common. Our experience suggests that nephronophthisis is a common cause of chronic renal failure and has commonly associated nonrenal abnormalities.
Asunto(s)
Enfermedades Renales/genética , Degeneración Retiniana/genética , Terminología como Asunto , Adolescente , Adulto , Anemia/genética , Niño , Preescolar , Femenino , Genes Recesivos , Humanos , Discapacidad Intelectual/genética , Enfermedades Renales Quísticas/genética , Masculino , Linaje , Convulsiones/genética , Síndrome , Uremia/genéticaRESUMEN
Vesicoureteric reflux is most commonly recognized in girls after urinary tract infection. Increasing recognition of vesicoureteric reflux in neonates, detected after an abnormal prenatal sonogram, shows a marked male predominance: 80% boys. Vesicoureteric reflux in children may be both a congenital abnormality, more common in boys, and an acquired abnormality, more common in girls with voiding dysfunction.
Asunto(s)
Reflujo Vesicoureteral/epidemiología , Factores de Edad , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Embarazo , Factores Sexuales , Ultrasonografía Prenatal , Reflujo Vesicoureteral/congénito , Reflujo Vesicoureteral/diagnóstico por imagenRESUMEN
Thirty-nine cadaveric renal allografts were performed in 28 children under 6 years of age. Common primary renal diseases were glomerulonephritis, dysplasia/hypoplasia, and reflux/obstructive nephropathy. After a mean follow-up of 40 months of patients with surviving grafts, 19 patients had functioning grafts, 3 had returned to dialysis, and 6 had died. These children required an extraordinary amount of care postoperatively because of anorexia, diarrhea, and ileus. Their psychomotor and physical development was retarded prior to transplant; this reversed dramatically after transplant, but catch-up growth occurred in only 4 patients. Many patients were noticeably more active and distractible for 1 to 2 years post-transplant. Major causes of graft failure were primary nonfunction of 5 donor kidneys (4 from donors under 1 year old) and renal vessel thrombosis in 5 recipients (3 with native kidneys in place who received kidneys from donors over 10 years old). Other causes were recurrence of hemolytic uremic syndrome and Wilms tumor, rejection, and sepsis. Kidneys from donors under 1 year old proved unsatisfactory, and large donor kidneys in small children tended to thrombose, especially when native kidneys with high urine output were left in situ.
Asunto(s)
Fallo Renal Crónico/cirugía , Trasplante de Riñón , Estatura , Cadáver , Niño , Desarrollo Infantil , Preescolar , Femenino , Rechazo de Injerto , Humanos , Lactante , Inteligencia , Fallo Renal Crónico/fisiopatología , MasculinoRESUMEN
Three cases of renal abscesses in children are described to illustrate the variable presenting features. An additional 23 pediatric cases, reported over the past ten years, were reviewed for clinical features and therapy. Fever, loin pain, and leukocytosis were common presenting features, but less than half of all abscesses were associated with either an abnormal urinalysis or a positive urine culture. The presenting features were sometimes confused with appendicitis, peritonitis, or a Wilms tumor. An organism was identified in 17 cases--Escherichia coli in 9 children and Staphylococcus aureus in 8 children. The majority of E. coli infections occurred in girls and the majority of S. aureus infections occurred in boys. Reflux was documented in 5 patients, and 2 children had a possible extrarenal source of infection. Antibiotics alone produced a cure in 10 children (38%), but 16 children (62%) required a surgical procedure.
Asunto(s)
Absceso/diagnóstico , Enfermedades Renales/diagnóstico , Absceso/etiología , Absceso/terapia , Antibacterianos/uso terapéutico , Niño , Infecciones por Escherichia coli/diagnóstico , Infecciones por Escherichia coli/terapia , Femenino , Humanos , Lactante , Enfermedades Renales/etiología , Enfermedades Renales/terapia , Masculino , Infecciones Estafilocócicas/diagnóstico , Infecciones Estafilocócicas/terapia , Reflujo Vesicoureteral/complicaciones , Reflujo Vesicoureteral/diagnósticoAsunto(s)
Síndrome Hemolítico-Urémico/etiología , Nefritis/etiología , Traumatismos por Radiación/etiología , Radioterapia/efectos adversos , Enfermedad Aguda , Ciclofosfamida/efectos adversos , Dacarbazina/efectos adversos , Femenino , Humanos , Lactante , Riñón/efectos de la radiación , Neoplasias del Sistema Nervioso Periférico/radioterapia , Raíces Nerviosas Espinales , Vincristina/efectos adversosAsunto(s)
Brotes de Enfermedades/epidemiología , Sarampión/epidemiología , Factores de Edad , Anemia Hemolítica/etiología , Niño , Preescolar , Encefalitis/etiología , Etnicidad , Femenino , Humanos , Lactante , Laringitis/etiología , Masculino , Sarampión/complicaciones , Sarampión/diagnóstico , Sarampión/mortalidad , Sarampión/prevención & control , Vacuna Antisarampión , Nueva Zelanda , Otitis Media/etiología , Neumonía/etiología , Estaciones del Año , Trombocitopenia/etiología , Vacunación , Vacunas AtenuadasRESUMEN
Bed-wetting is a common and disturbing problem for children and their families. Underlying causes are rarely found and should be suspected from the history rather than from investigations. Children older than 7 years can usually be cured if they are motivated enough to use an alarm conditioning device. Intranasal desmopressin acetate, the current drug of choice, will produce only temporary relief.
Asunto(s)
Enuresis/terapia , Medicina Familiar y Comunitaria/métodos , Administración Intranasal , Factores de Edad , Causalidad , Niño , Desamino Arginina Vasopresina/administración & dosificación , Desamino Arginina Vasopresina/uso terapéutico , Diagnóstico Diferencial , Enuresis/diagnóstico , Enuresis/etiología , Humanos , Imipramina/uso terapéutico , Ácidos Mandélicos/uso terapéutico , Anamnesis , Monitoreo Fisiológico , Motivación , Parasimpatolíticos/uso terapéutico , Sueño , Factores de Tiempo , Insuficiencia del TratamientoRESUMEN
Intraperitoneal erythropoietin was given to three children on chronic peritoneal dialysis. Doses between 100 and 150 units/kg were given undiluted into a dry cavity twice weekly and left for 10-12 h before resuming dialysis. Satisfactory haemoglobin levels were seen over a 6-month period and there were no complications. Intraperitoneal administration of erythropoietin is cost-effective and avoids the local pain of subcutaneous injections.
Asunto(s)
Anemia/tratamiento farmacológico , Eritropoyetina/administración & dosificación , Fallo Renal Crónico/complicaciones , Anemia/etiología , Niño , Eritropoyetina/farmacocinética , Femenino , Hemoglobinas/efectos de los fármacos , Humanos , Lactante , Inyecciones Intraperitoneales , Fallo Renal Crónico/tratamiento farmacológico , Masculino , Diálisis Peritoneal , Proteínas Recombinantes/administración & dosificación , Proteínas Recombinantes/farmacocinéticaRESUMEN
PURPOSE: To determine whether compensatory renal growth (CRG), which occurs in adults, children, and infants after loss of functioning renal tissue, occurs in fetal life. MATERIALS AND METHODS: Prenatal ultrasound scans were used to select 29 patients with a unilateral multicystic dysplastic kidney and four patients with unilateral renal agenesis. Accurate measurements of prenatal renal length were obtained in 21 of these patients; an accurate measurement of postnatal renal length and birth weight was obtained in 27 of these patients. Prenatal and postnatal renal measurements of the contralateral kidney were compared with renal length in 23 matched control patients and previously reported normal renal lengths. RESULTS: The single functioning kidneys in the study patients were significantly longer than those in the control patients before and after birth (P = .001). CONCLUSION: This study provides strong evidence to support the belief that CRG occurs before birth.
Asunto(s)
Desarrollo Embrionario y Fetal/fisiología , Enfermedades Fetales/diagnóstico por imagen , Enfermedades Renales Quísticas/embriología , Riñón/anomalías , Ultrasonografía Prenatal , Peso al Nacer , Femenino , Humanos , Recién Nacido , Riñón/diagnóstico por imagen , Enfermedades Renales Quísticas/diagnóstico por imagen , Tamaño de los Órganos , EmbarazoRESUMEN
To test the hypotheses that administering dopamine before and concurrently with indomethacin therapy would (1) increase successful ductal closure rate, (2) act by maintaining a diuresis, and (3) prevent oliguria or high serum creatinine concentrations, we conducted a randomized, controlled trial in infants whose gestational age was <36 weeks and who had hemodynamically significant ductus arteriosus. Thirty-six infants were selected to receive a continuous infusion of either placebo or dopamine at either a low dosage of 2 micrograms/kg per minute or a higher dosage of 5 micrograms/kg per minute, beginning 6 hours before the use of indomethacin and continuing until 12 hours after the third dose of indomethacin. A total of 12 patients were selected to receive placebo, 14 were selected to receive "low dopamine," and 10 were selected to receive "high dopamine." The three groups were similar in their initial characteristics. Serum creatinine concentrations, urine output, and fractional excretion of sodium were not different in the three groups after indomethacin treatment. Two patients receiving placebo required a second course of indomethacin compared with four patients in the low-dopamine group and one in the high-dopamine group. The proportion of failures of medical treatment was not statistically different among the three groups. We conclude that concomitant dopamine therapy neither decreases the failure rate in indomethacin-treated infants nor reduces the magnitude of the indomethacin-induced oliguria.
Asunto(s)
Dopamina/administración & dosificación , Conducto Arterioso Permeable/tratamiento farmacológico , Indometacina/uso terapéutico , Creatinina/sangre , Quimioterapia Combinada , Conducto Arterioso Permeable/fisiopatología , Humanos , Recién Nacido , Riñón/fisiopatologíaRESUMEN
Four preterm infants with severe intrauterine growth retardation had renal failure from birth. The amount of asphyxia associated with the birth process did not fully explain the renal failure. Before delivery all for fetuses had severe oligohydramnios and an empty urinary bladder. These observations strengthen the view that severe intrauterine growth retardation may be accompanied by oligohydramnios caused by fetal renal failure.
Asunto(s)
Lesión Renal Aguda/complicaciones , Enfermedades Fetales/complicaciones , Retardo del Crecimiento Fetal/complicaciones , Lesión Renal Aguda/metabolismo , Lesión Renal Aguda/patología , Líquido Amniótico/metabolismo , Cesárea , Femenino , Enfermedades Fetales/metabolismo , Sufrimiento Fetal/complicaciones , Humanos , Recién Nacido , Recien Nacido Prematuro , Riñón/patología , Embarazo , Diagnóstico Prenatal , UltrasonografíaRESUMEN
The association of various diuretic therapies with the renal handling of minerals, important factors in the development of nephrocalcinosis and osteopenia, was studied in low birth weight infants. Twenty-four-hour urine specimens (n = 65) were collected from 30 patients who were treated with (1) furosemide with or without spironolactone and hydrochlorothiazide (2) spironolactone with hydrochlorothiazide, (3) spironolactone alone, or (4) no diuretic (control; i.e., after diuretic). Hypercalciuria (urinary calcium greater than or equal to 0.15 mmol/kg/day) was observed in all but the control group. Covariate analysis demonstrated a significant effect of sodium, calcium, and vitamin D intakes (p less than 0.01) and sodium excretion (p less than 0.05) on urinary calcium excretion. Treatment with any of these diuretics in neonates may be associated with abnormal renal losses of calcium, sodium, chloride, and potassium. From a nutritional perspective, neonates requiring long-term diuretic therapy thereby require special consideration, including monitoring of mineral excretion and renal ultrasonography.
Asunto(s)
Enfermedades Óseas Metabólicas/inducido químicamente , Diuréticos/efectos adversos , Enfermedades del Prematuro/orina , Minerales/orina , Nefrocalcinosis/inducido químicamente , Peso al Nacer , Quimioterapia Combinada , Femenino , Furosemida/efectos adversos , Humanos , Hidroclorotiazida/efectos adversos , Recién Nacido , Enfermedades del Prematuro/tratamiento farmacológico , Masculino , Espironolactona/efectos adversosRESUMEN
Between 1979 and 1986 an abnormality of the urinary tract was diagnosed by prenatal ultrasound examination in 93 fetuses. Postnatal investigation at a large teaching hospital showed a definite abnormality in 85 infants, 66 of whom were boys. An obstructed urinary tract, usually requiring surgery, was present in 46 infants. Other abnormalities included a multicystic kidney (in 15 infants), vesicoureteric reflux (in 9), prune-belly syndrome (in 5) and polycystic kidneys (in 5). Early recognition and treatment of urinary tract disorders in infants should be accompanied by informed prenatal counselling to minimize parents' anxiety.
Asunto(s)
Enfermedades Fetales/diagnóstico , Diagnóstico Prenatal , Ultrasonografía , Enfermedades Urológicas/diagnóstico , Femenino , Humanos , Recién Nacido , Masculino , Enfermedades Renales Poliquísticas/diagnóstico , Embarazo , Síndrome del Abdomen en Ciruela Pasa/diagnóstico , Reflujo Vesicoureteral/diagnósticoRESUMEN
A cytotoxin active on Vero cells, less active on hela cells, and inactive on WI38 cells (Vero toxin [VT]) was detected in stool isolates of Escherichia coli from 8 of 15 sporadic cases of haemolytic uraemic syndrome (HUS). Stools from 5 of these 8 patients were examined for faecal VT activity, and all were positive. Of the 7 of 15 patients who did not have VT+ E. coli, 2 were positive for faecal VT, and a third (patient K) had strong serological evidence of VT+ E. coli infection. 2 HUS patients, including patient F, had siblings with uncomplicated diarrhoea who had both VT+ E. coli in the stools and faecal VT activity. Thus 11 of 15 (73%) of the HUS cases had evidence of infection by VT+ E. coli, suggesting that there was an association between these organisms and these cases of HUS. The clustering of 2 HUS patients and their siblings with VT+ E. coli accords with this suggestion, as do the rising titres of VT-neutralising antibody in 2 HUS patients.
Asunto(s)
Citotoxinas/biosíntesis , Infecciones por Escherichia coli , Escherichia coli/metabolismo , Heces/microbiología , Síndrome Hemolítico-Urémico/etiología , Anticuerpos/análisis , Niño , Preescolar , Citotoxinas/inmunología , Diarrea Infantil/etiología , Diarrea Infantil/microbiología , Escherichia coli/clasificación , Escherichia coli/aislamiento & purificación , Infecciones por Escherichia coli/microbiología , Femenino , Síndrome Hemolítico-Urémico/microbiología , Humanos , Lactante , Masculino , SerotipificaciónRESUMEN
One hundred and nine children with urinary tract calculi were reviewed and in some cases reinvestigated. Eighteen children had lower urinary tract calculi, which in all cases were associated with an underlying urodynamic abnormality. Sixty percent of 91 children with upper urinary tract calculi could be classified into 4 similarly sized etiological groups: an underlying urodynamic abnormality; urinary tract infection without a urodynamic abnormality; metabolic disorders; idiopathic hypercalciuria. An underlying abnormality was not found in 32% of cases. A painless presentation occurred in 39% of those with upper tract calculi. A family history of urinary calculi occurred in approximately one-half of children with either an idiopathic calculus or a calculus associated with cystinuria or idiopathic hypercalciuria. We conclude that urinary tract calculi, though rare in children, require extensive investigation to rule out urodynamic, infective and metabolic abnormalities. If such abnormalities are not found, the recurrence rate in the remainder is small and conservative treatment can usually be recommended.
Asunto(s)
Cálculos Urinarios/etiología , Adolescente , Calcio/orina , Niño , Preescolar , Cistinuria/complicaciones , Femenino , Humanos , Lactante , Masculino , Infecciones Urinarias/complicaciones , UrodinámicaRESUMEN
Two boys 12 and 8 years of age with biopsy proven minimal lesion nephrotic syndrome developed acute renal failure during the course of their illness. Renal failure developed in the first boy at the time of onset of his nephrotic syndrome while in the second boy it occurred at the time of a relapse of his disease, 5 1/2 years after onset. Both patients had a complete resolution of renal failure and nephrosis following peritoneal dialysis and oral prednisone. Acute renal failure requiring dialysis is an unexplained and rare complication of minimal lesion nephrotic syndrome in adults and children.
Asunto(s)
Lesión Renal Aguda/terapia , Nefrosis Lipoidea/terapia , Diálisis Peritoneal , Lesión Renal Aguda/etiología , Lesión Renal Aguda/fisiopatología , Animales , Niño , Tasa de Filtración Glomerular , Humanos , Presión Hidrostática , Masculino , Nefrosis Lipoidea/complicaciones , RatasRESUMEN
The renal biopsies of 372 children with various glomerular disorders were reviewed and crescent formation was seen in 56 cases (15%). Four disorders, i.e. systemic lupus erythematosus, membranoproliferative glomerulonephritis (MPGN) types I and II and Henoch-Schönlein disease accounted for 74% of 10 diagnostic categories. Idiopathic rapidly progressive glomerulonephritis (RPGN) was seen in only 2 cases. Crescents associated with MPGN types I or II or idiopathic RPGN had a bad renal prognosis, whereas the presence of crescents in other disorders did not necessarily affect the renal outcome. Immunofluorescent and electron microscopic findings are essential to distinguish many conditions which may be associated with crescent formation in childhood renal disease.