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

Rizk, Dana V.; Chapman, Arlene B.

doi:10.1007/s00467-007-0706-9

Cited by 26 publications

(22 citation statements)

References 68 publications

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“…Only one child with PKD1 had decreased GFR. This is in agreement with the known fact that, in childhood, renal function is well preserved in the majority of patients and that GFR begins to decline after the paediatric age [29]. The patient with decreased GFR was diagnosed at the age of 2 years because of the positive family history of ADPKD; at the time of the study he was 3 years old.…”

Section: Discussionsupporting

confidence: 84%

Genotype–phenotype correlation in children with autosomal dominant polycystic kidney disease

et al. 2009

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Adults with autosomal dominant polycystic kidney disease (ADPKD) and PKD1 mutations have a more severe disease than do patients with PKD2 mutations. The aim of this study was to compare phenotypes between children with mutations in the PKD1/PKD2 genes. Fifty PKD1 children and ten PKD2 children were investigated. Their mean age was similar (8.6 +/- 5.4 years and 8.9 +/- 5.6 years). Renal ultrasound was performed, and office blood pressure (BP), ambulatory BP, creatinine clearance and proteinuria were measured. The PKD1 children had, in comparison with those with PKD2, significantly greater total of renal cysts (13.3 +/- 12.5 vs 3.0 +/- 2.1, P = 0.004), larger kidneys [right/left kidney length 0.89 +/- 1.22 standard deviation score (SDS) vs 0.17 +/- 1.03 SDS, P = 0.045, and 1.19 +/- 1.42 SDS vs 0.12 +/- 1.09 SDS, P = 0.014, successively] and higher ambulatory day-time and night-time systolic BP (day-time/night-time BP index 0.93 +/- 0.10 vs 0.86 +/- 0.05, P = 0.021 and 0.94 +/- 0.07 vs 0.89 +/- 0.04, P = 0.037, successively). There were no significant differences in office BP, creatinine clearance or proteinuria. Prenatal renal cysts (14%), hypertension defined by ambulatory BP (27%) and enlarged kidneys (32%) were observed only in the PKD1 children. This is the first study on genotype-phenotype correlation in children with ADPKD. PKD1 children have more and larger renal cysts, larger kidneys and higher ambulatory BP than do PKD2 children. Renal cysts and enlarged kidneys detected prenatally are highly specific for children with PKD1.

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Section: Discussionsupporting

confidence: 84%

Genotype–phenotype correlation in children with autosomal dominant polycystic kidney disease

et al. 2009

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“…Because nephromegaly in adults with ADPKD positively correlates with the progression of renal excretory failure [36,37], clinical trials with the aim of reducing kidney cyst growth are currently underway in this population [1,[38][39][40][41]. The availability of proven effective treatment would clearly affect the indication for diagnostic screening of at-risk children.…”

Section: Discussionmentioning

confidence: 97%

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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“…MRI studies [89] have revealed that hepatic cysts are present in 83% of individuals between 15 and 46 years of age and in 55% of patients between the ages of 15 and 25 years [90]. These data suggest that hepatic cysts may be common in children with ADPKD, and like pancreatic cysts, when present, may clearly differentiate ADPKD from ARPKD.…”

Section: Adpkd-clinical Featuresmentioning

confidence: 96%

“…A unilateral presentation of renal cysts with renal enlargement is not uncommon in children. Hypertension can present during the newborn or infant periods and is common in pediatric and young adult ADPKD patients, despite normal renal function [32,59,90,94,98]. Young hypertensive children with ADPKD may present with acute congestive heart failure [21].…”

Section: Adpkd-clinical Featuresmentioning

confidence: 99%

Diagnosis and management of childhood polycystic kidney disease

2010

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A number of syndromic disorders have renal cysts as a component of their phenotypes. These disorders can generally be distinguished from autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) by imaging studies of their characteristic, predominantly non-renal associated abnormalities. Therefore, a major distinction in the differential diagnosis of enlarge echogenic kidneys is delineating ARPKD from ADPKD. ADPKD and ARPKD can be diagnosed by imaging the kidney with ultrasound, computed tomography, or magnetic resonance imaging (MRI), although ultrasound is still the method of choice for diagnosis in utero and in young children due to ease of use, cost, and safety. Differences in ultrasound characteristics, the presence or absence of associated extrarenal abnormalities, and the screening of the parents >40 years of age usually allow the clinician to make an accurate diagnosis. Early diagnosis of ADPKD and ARPKD affords the opportunity for maximal anticipatory care (i.e. blood pressure control) and in the not-too-distant future, the opportunity to benefit from new therapies currently being developed. If results are equivocal, genetic testing is available for both ARPKD and ADPKD. Specialized centers are now offering preimplantation genetic diagnosis and in vitro fertilization for parents who have previously had a child with ARPKD. For ADPKD patients, a number of therapeutic interventions are currently in clinical trial and may soon be available.

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

Cited by 26 publications

References 68 publications

Genotype–phenotype correlation in children with autosomal dominant polycystic kidney disease

Genotype–phenotype correlation in children with autosomal dominant polycystic kidney disease

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

Diagnosis and management of childhood polycystic kidney disease

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