ABSTRACT
Following the introduction of routine prenatal scanning, and more recently detailed anomaly scans, antenatal ultrasound (US) diagnosis of fetal renal tract abnormalities has become well established. Prenatal detection has resulted in a group of asymptomatic infants becoming patients in the last two decades. These infants are referred for paediatric (general, urological and nephrological) consultations, radiological imaging and monitoring. The urgency with which to undertake imaging depends on the suspected antenatal diagnosis and clinical scenario, with bilateral hydronephrosis, posterior urethral valves and complicated duplex systems taking a high priority. Treatment is mainly preventive and relies on close follow-up and timely intervention. US remains the main imaging modality of choice postnatally; together with nuclear medicine, it gives a powerful combination of both anatomy and function. However, magnetic resonance urography may have increasing importance in becoming the investigation of choice of the future for more complex cases.
Subject(s)
Fetal Diseases/diagnosis , Kidney Diseases/congenital , Kidney Diseases/diagnosis , Dilatation, Pathologic , Fetal Diseases/diagnostic imaging , Humans , Kidney Calices/diagnostic imaging , Kidney Calices/pathology , Kidney Diseases/diagnostic imaging , Kidney Pelvis/diagnostic imaging , Kidney Pelvis/pathology , Magnetic Resonance Imaging , Polycystic Kidney Diseases/congenital , Polycystic Kidney Diseases/diagnostic imaging , Polycystic Kidney, Autosomal Recessive/congenital , Polycystic Kidney, Autosomal Recessive/diagnostic imaging , Ultrasonography, PrenatalABSTRACT
A retrospective analysis was conducted on 10 consecutive cases of neonatal ARPKD, 9 of whom received kidney transplants (KT). All were diagnosed antenatally (n = 6) or at birth. In the first month of life 70% required ventilatory support. Pre-emptive bilateral nephrectomy and peritoneal dialysis (PD) catheter placement were performed in 9 at a mean age of 7.8 +/- 11.9 months. The indications for nephrectomy were massive kidneys, resulting in suboptimal nutrition and respiratory compromise. All patients received assisted enteral nutrition, with significant increase in mean tolerated feeds following nephrectomy (p < 0.05), with increase in mean normalized weight and height (0.92 and 1.2 delta SDS respectively), by one year post-transplantation. KT was performed at a mean age and weight of 2.5 +/- 1.4 years and 13.3 +/- 6.1 kg. The mean creatinine clearance at one year post-KT was 91.3 +/- 38.1 mls/min/1.73 m(2), with a projected graft life expectancy of 18.4 years. Patient survival was 89% and death censored graft survival was 100%, at a mean follow-up of 6.1 +/- 4.5 years post-transplant. Six patients demonstrated evidence of hepatic fibrosis, one of which required liver transplantation. In patients with massive kidneys from ARPKD, pre-emptive bilateral nephrectomy, supportive PD and early aggressive nutrition, can minimize early infant mortality, so that subsequent KT can be performed with excellent patient and graft survival.
Subject(s)
Kidney Transplantation , Polycystic Kidney, Autosomal Recessive/congenital , Polycystic Kidney, Autosomal Recessive/therapy , Child, Preschool , Enteral Nutrition , Female , Follow-Up Studies , Humans , Infant , Infant, Newborn , Kaplan-Meier Estimate , Male , Nephrectomy , Peritoneal Dialysis , Retrospective Studies , Treatment OutcomeSubject(s)
Genetic Predisposition to Disease/genetics , Mutation/genetics , Nephrotic Syndrome/congenital , Nephrotic Syndrome/genetics , Child, Preschool , Denys-Drash Syndrome/genetics , Female , Frasier Syndrome/genetics , Humans , Infant, Newborn , Kidney Transplantation/methods , Nephrectomy , Nephrotic Syndrome/therapy , Polycystic Kidney, Autosomal Dominant/congenital , Polycystic Kidney, Autosomal Dominant/therapy , Polycystic Kidney, Autosomal Recessive/congenital , Polycystic Kidney, Autosomal Recessive/therapy , Pregnancy , Proteinuria/congenital , Proteinuria/therapy , Treatment OutcomeABSTRACT
Epithelial hyperplasia is an early feature of the renal and biliary lesions in autosomal recessive polycystic kidney disease (ARPKD). To explore the cellular basis of this hyperplasia we isolated, cultured, and characterized biliary tract epithelium from common bile duct explants of mice with ARPKD (the BPK mouse) and controls. Primary cultures resulted in dense colonies of contact-inhibited epithelial cells with a homogenous growth pattern. Colony growth in serum-free basal medium (BM) of BPK-derived cells was not different from controls. Supplementation of BM with epidermal growth factor (EGF) induced a proliferative response in BPK-derived cells that was significantly increased over controls as assessed by [3H]thymidine uptake and expressed as percent change over growth in BM (BPK 239% and controls 131% of BM growth). In contrast, no differences between BPK- and control-derived cells were found with regard to the effects of BM supplementation with IGF-I, IGF-II, acidic fibroblast growth factor, keratinocyte growth factor, hepatocyte growth factor, or transforming growth factor-beta. Primary culture of biliary epithelium may provide a useful in vitro model for the study of the cellular pathophysiology of ARPKD. Our data demonstrate that increased epithelial sensitivity to EGF-like proteins may play a role in biliary epithelial proliferative changes which parallel renal tubular epithelial proliferation in ARPKD.
Subject(s)
Common Bile Duct/drug effects , Epidermal Growth Factor/pharmacology , Polycystic Kidney, Autosomal Recessive/pathology , Animals , Cells, Cultured , Common Bile Duct/pathology , Disease Models, Animal , Epithelium/drug effects , Epithelium/pathology , Mice , Mice, Inbred BALB C , Polycystic Kidney, Autosomal Recessive/congenitalABSTRACT
Los quistes renales son dilataciones anormales de túbulos, conductos o glomérulos, o estructuras similares a divertículos posiblemente en continuidad con el nefrón. La enfermedad quística renal puede comprometer ambos riñones en forma difusa como en el riñón poliquístico o enfermedad autosómica dominante, o un área particular de ambos riñones como los riñones en esponja, o sólo un riñón o parte de él como en el riñón multiquístico. También hay un tumor quístico que puede reemplazar el parénquima renal normal como es el quiste multilocular. Finalmente el quiste simple puede ocurrir solo o junto a más quistes en cualquier lugar del riñón. La clasificación de los quistes con el propósito de simplificar conceptos no provee nacesariamente un marco práctico y clínico para tan diversos procesos patológicos. El advenimiento de la ecografía, la resonancia nuclear magnética y la tomografía computarizada ha mejorado drásticamente la habilidad del clínico para diagnosticar y diferenciar la variedad de enfermedad renal quística. Sin embargo, la importancia de una cuidadosa historia familiar es enfatizada por la clasificación de esa patología en categorías genéticas.
Subject(s)
Humans , Child , Polycystic Kidney, Autosomal Recessive/classification , Polycystic Kidney, Autosomal Recessive/congenital , Polycystic Kidney, Autosomal Recessive/diagnosis , Polycystic Kidney, Autosomal Recessive/nursing , Polycystic Kidney, Autosomal Recessive/epidemiology , Polycystic Kidney, Autosomal Recessive/pathology , Polycystic Kidney, Autosomal RecessiveABSTRACT
We report a case of infantile polycystic kidney disease, during the course of two consecutive pregnancies in the same woman. Observed rates of recurrence in families at risk is higher than theoretical rates (25%). Antenatal ultrasound can show signs of bilateral involvement, which is always lethal and generally leads to elective termination of pregnancy. Diagnosis can rarely be made before 24 weeks of pregnancy.
