Ruptured intracranial aneurysm and recessive polycystic kidney Disease: A Rare Association

Helal, Imed; Handous, I.; Khadhar, M.; Bezzine, Hamida; Hamida, F. Ben; Abdallah, T. Ben

doi:10.4103/1319-2442.265479

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Rare Findings In Arpkd1

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2020

2024

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“…29 Until now, a few ARPKD patients (clinical diagnosis not confirmed by molecular testing) with intracranial or extracranial aneurysms were reported. [30][31][32] Pancreatic cysts in a few patients were also described. 21…”

Section: Rare Findings In Arpkdmentioning

confidence: 99%

Autosomal Recessive Polycystic Kidney Disease—The Clinical Aspects and Diagnostic Challenges

2020

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Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common ciliopathies with kidney (nephromegaly, hypertension, renal dysfunction) and liver involvement (congenital hepatic fibrosis, dilated bile ducts). Clinical features also include growth failure and neurocognitive impairment. Plurality of clinical aspects requires multidisciplinary approach to treatment and care of patients. Until recently, diagnosis was based on clinical criteria. Results of genetic testing show the molecular basis of polycystic kidneys disease is heterogeneous, and differential diagnosis is essential. The aim of the article is to discuss the role of genetic testing and its difficulties in diagnostics of ARPKD in children.

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