A 4-year-old girl with autosomal dominant polycystic kidney disease complicated by a ruptured intracranial aneurysm

Kubo, Satomi; Nakajima, Mitsuru; Fukuda, Kazuyoshi; Nobayashi, Misato; Sakaki, Toshisuke; Aoki, Katsuya; Hirao, Yoshihiko; Yoshioka, Akira

doi:10.1007/s00431-004-1528-4

Cited by 23 publications

(15 citation statements)

References 10 publications

(12 reference statements)

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“…Additional risk factors for subarachnoid hemorrhage in the general population are tobacco smoking and heavy alcohol consumption, 16 but we omitted these factors in our analysis because of incomplete data. According to published data, subarachnoid hemorrhage from rupture of ICAN in ADPKD often occurs at a young age, 5,15,17 with 64% occurring before age 50 years. 4 Also, patients with a previous stroke from a ruptured ICAN are at risk for new ICANs and should be examined for them.…”

Section: Discussionmentioning

confidence: 99%

Intracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease

Niemczyk¹,

Gradzik

Niemczyk

et al. 2013

AJNR Am J Neuroradiol

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Section: Discussionmentioning

confidence: 99%

Intracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease

Niemczyk¹,

Gradzik

Niemczyk

et al. 2013

AJNR Am J Neuroradiol

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“…Aneurysms can lead to significant morbidity, and to death, at the time of rupture [14]. Though rare, ruptured cerebral aneurysms have been described in children with ADPKD [15]. Screening for intracranial aneurysms (ICAs) should be done at the age of 20 years in high-risk patients, and repeat imaging should be offered at 10-year intervals for patients with a family history of ruptured ICAs [16,17].…”

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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“…Although ruptured cerebral aneurysms in children with ADPKD are rare, they have been reported [101]. Screening for ICAs is recommended at the age of 20 years in high-risk patients with follow-ups at 10-year intervals, especially for patients with a family history of ruptured ICAs [90,102].…”

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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A 4-year-old girl with autosomal dominant polycystic kidney disease complicated by a ruptured intracranial aneurysm

Cited by 23 publications

References 10 publications

Intracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease

Intracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease

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

Diagnosis and management of childhood polycystic kidney disease

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