Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender

Abstract

The clinical course of 66 boys and 49 girls with autosomal recessive polycystic kidney disease recruited from departments of paediatric nephrology was investigated over a mean observation period of 4.92 years. This is a selected study group of children from departments of paediatric nephrology who in most cases survived the neonatal period, since birth clinics did not participate. The median age at diagnosis was 29 days (prenatal to 14.5 years). We observed decreased glomerular filtration rates (GFRs) in 72% (median age at onset of decrease of GFR < 2 SD, 0.6 years; range, 0-18.7 years), and 11 patients developed end-stage renal disease. Hypertension requiring drug treatment was found in 70% (median age at start of medication, 0.5 years; range, 0-16.7 years). Kidney length was above the 97th centile in 68% of patients, and kidney length did not increase with age or deterioration of renal function. Urinary tract infections occurred in 30%, growth retardation in 25%, and clinical signs of hepatic fibrosis were detected in 46%. Thirteen patients (11%) died during the observation period, 10 of them in the first year of life. There was a statistically significant sex difference in terms of a more pronounced progression in girls. The survival probability at 1 year was 94% for male patients and 82% for female patients (p < 0.05) in this study. Urinary tract infections occurred more frequently in girls (p < 0.025) and were observed earlier. In addition, more girls had impaired renal function, developed end-stage renal disease and showed growth retardation; these differences, however, were not significant. For the children in this study, however, our results indicate that the long-term prognosis in the majority of cases is better throughout childhood and youth than often stated.

Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes

“…The observation that only high doses of the epithelial Na + channel inhibitor amiloride were able to modestly inhibit Na + reabsorption also does not support this theory [29]. Furthermore, a number of other studies also failed to demonstrate a link between hyponatremia, intravascular volume expansion, and low renin levels [14,26]. As in ADPKD [30], the renin-angiotensin system (RAS) may function as a key regulator of blood pressure; however, only limited data exist on RAS activation in ARPKD [31].…”

“…Systemic hypertension, which usually develops within the first few months of life, affects up to 80 % of ARPKD children [9,11]. It is very common in both infants and adolescents [4], even in patients with normal renal function, and the majority of children with ARPKD are severely affected [11,14]. The pathogenesis of systemic hypertension in ARPKD is not completely understood.…”

“…Some patients that survive the neonatal period present with complications primarily associated with liver disease, such as portal hypertension (PH) [3,4] and esophageal bleeding [9,12,13], later in childhood and adulthood; others may progress to end-stage renal disease (ESRD) within the first decades of life [3]. Other associated comorbidities, such as systemic hypertension [4], renal failure [3,14,15], or chronic lung disease [11], can also occur when the children get older. As more patients with ARPKD survive to adulthood, liver and other complications are likely to become more prevalent, with hepatosplenomegaly being the predominant clinical finding [3].…”

Clinical and ultrasonographical characterization of childhood cystic kidney diseases in Egypt

“…While ARPKD is classically described as a disease of infancy with the neonatal presentation of enlarged echogenic kidneys and respiratory distress from pulmonary hypoplasia, 22 this typical picture is not always the case as a wide range of presenting features are described including later presentation with evidence of renal insufficiency or liver disease. Although hepatic involvement is invariable, it was evident at presentation in 37% of our cases, while Zerres et al 23 reported an even higher figure of 50%. Manifesting portal hypertension existed in 14.8% of our cases in agreement with Guay-Woodford and Desmond, 2003 who reported a close percentage of 15%.…”

Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment

“…[36][37][38] In utero, the diagnosis is suggested by the presence of oligohydramnios, kidney enlargement, and the absence of urine in the fetal bladder, findings typically detectable by US at 18-20 weeks gestation. DNA analysis by amniocentesis or chorionic villus sampling is currently not part of the routine evaluation of ARPKD patients, with its use typically limited to uncertain cases or for prenatal confirmation.…”