Phenotypic heterogeneity in pediatric autosomal dominant polycystic kidney disease at first presentation: a single-center, 20-year review

Tee, James B.; Acott, Philip D.; McLellan, Daniel; Crocker, John F. S.

doi:10.1053/j.ajkd.2003.10.017

Cited by 43 publications

(37 citation statements)

References 23 publications

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“…These findings suggest that cardiovascular involvement, which is currently the main cause of death in ADPKD adults, starts very early in the course of ADPKD [2][3][4]. Seven (15%) of our paediatric cohort were found to have hypertension and seven (15%) had borderline hypertension at the last follow-up, which is consistent with findings from previous studies [7,31]. The rate of hypertension among our patient cohort was lower than that reported in a number of other studies, which was around 30% [28,32].…”

Section: Discussionsupporting

confidence: 93%

Similar renal outcomes in children with ADPKD diagnosed by screening or presenting with symptoms

2010

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Autosomal dominant polycystic kidney disease (ADPKD) in children is sometimes considered to be a benign condition, with morbidity manifesting in adulthood. Therefore, diagnostic screening of children at risk is controversial. The aim of our study was to to compare the manifestations of ADPKD in children diagnosed by postnatal ultrasound (US) screening versus those presenting with symptoms. This was a retrospective chart review of children with ADPKD assessed in a single centre between 1987 and 2007. Age and reason for diagnosis were noted, and children were separated into two groups: (1) those diagnosed on the basis of family-based screening; (2) those presenting with a symptom. The two groups were compared for renal size, number of cysts, estimated glomerular filtration rate (eGFR), the presence of hypertension and microalbuminuria. In the 47 children with ADPKD (21 females) from 33 families who satisfied the enrollment criteria, mean (standard deviation) age at referral and last follow-up was 7.2 (4.4) and 12.9 (5.1) years, respectively, and the mean follow-up duration was 5.7 (3.6) years. Diagnosis was based on postnatal US screening in 31 children, whereas 16 were diagnosed after presenting with symptoms. The proportions of children with nephromegaly, hypertension, microalbuminuria and decreased eGFR, respectively, were similar in both groups. Based on these results, we conclude that renal-related morbidities, including hypertension and microalbuminia, do occur in children with ADPKD and at a similar frequency in those diagnosed after presenting with symptoms and those diagnosed upon postnatal screening. We suggest that at-risk children should have regular checks to detect hypertension. Moreover, affected children may benefit from novel therapies to minimise cystic disease progression.

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Section: Discussionsupporting

confidence: 93%

Similar renal outcomes in children with ADPKD diagnosed by screening or presenting with symptoms

2010

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“…Patients detected with ADPKD during childhood and adolescence by means of ultrasonography are usually pauci-symptomatic [4,[12][13][14][15][16]. However, they may present with high blood pressure, gross hematuria, abdominal mass, flank pain and, less frequently, with renal insufficiency [15].…”

Section: Discussionmentioning

confidence: 99%

Prognosis of autosomal dominant polycystic kidney disease diagnosed in utero or at birth

et al. 2007

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The use of prenatal ultrasonography has resulted in increased numbers of fetuses being diagnosed with autosomal dominant polycystic kidney disease (ADPKD), but the long-term prognosis is still not well-known. Between 1981 and 2006 we followed 26 consecutive children with enlarged hyperechoic kidneys detected between the 12th week of pregnancy and the first day of life (Day 1) as well as one affected parent. Three other fetuses were excluded following the termination of the pregnancy. The mother was the transmitting parent in 16 of the 26 children (ns, p=0.1). Clinical features that presented during follow-up were oligoamnios (5/26), neonatal pneumothorax (3/26), pyelonephritis (5/26), gross hematuria (2/26), hypertension (5/26), proteinuria (2/26) and chronic renal insufficiency (CRI) (2/26). At the last follow-up (mean duration of follow-up: 76 months; range: 0.5-262 months), 19 children (mean age: 5.5 years) were asymptomatic, five (mean age: 8.5 years) had hypertension, two (mean age: 9.7 years) had proteinuria and two (mean age: 19 years) had CRI. Children presenting enlarged kidneys postnatally tended to have more clinical manifestations than their counterparts who did not. Of 25 siblings of the patients, seven had renal cysts; these were detected during childhood in five siblings and in utero in two siblings. In conclusion, prognosis is favourable in most children with prenatal ADPKD, at least during childhood. The sex of the transmitting parent is not a risk factor of prenatal ADPKD. A high proportion of siblings develop early renal cysts. Abnormalities visualized by ultrasonography appear to be associated to more clinical manifestations.

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“…The functions of many of its domains remain unknown; however, some extracellular motifs suggest that polycystin 1 has the ability to interact with surrounding matrix and cell membrane proteins. The intracellular domains have many sites for phosphorylation and are in- Unknown 54% [10] volved in signal transduction. Polycystin 1 has been found at the cell-cell junctions, in focal adhesion complexes, and, most recently, in the primary cilium [19].…”

Section: Pathogenesismentioning

confidence: 99%

“…In addition, abnormal circadian blood pressure rhythms are present in children with ADPKD [8]. Other cardiovascular abnormalities found in affected children include mitral valve prolapse (12% ADPKD vs 3% unaffected children), increased left ventricular mass (87.1 gm/m 2 ADPKD vs 76 gm/m 2 control subjects), and hyperlipidemia (defined as a fasting cholesterol or triglyceride level above the 95th percentile for age and gender), detected in 54% of children with the disease [9,10].…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Treatment of autosomal dominant polycystic kidney disease (ADPKD): the new horizon for children with ADPKD

Rizk

Chapman

2008

Pediatr Nephrol

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Polycystic kidney disease (PKD) is the most common inherited renal disorder. Patients with PKD remain clinically asymptomatic for decades, while significant anatomic and physiologic systemic changes take place. Sequencing of the responsible genes and identification of their protein products have significantly expanded our understanding of the pathophysiology of PKD. The molecular basis for cystogenesis is being unraveled, leading to new targets for therapy and giving hope to millions of people suffering from PKD. This has direct implications for children with PKD with regard to screening for the disease and identification of high-risk individuals. In this article we provide a review of the clinical manifestations in children with autosomal dominant polycystic kidney disease (ADPKD), the genetic and molecular basis for the disease, and a concise review of potential therapies being evaluated.

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Phenotypic heterogeneity in pediatric autosomal dominant polycystic kidney disease at first presentation: a single-center, 20-year review

Cited by 43 publications

References 23 publications

Similar renal outcomes in children with ADPKD diagnosed by screening or presenting with symptoms

Similar renal outcomes in children with ADPKD diagnosed by screening or presenting with symptoms

Prognosis of autosomal dominant polycystic kidney disease diagnosed in utero or at birth

Treatment of autosomal dominant polycystic kidney disease (ADPKD): the new horizon for children with ADPKD

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