Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy |
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| Authors: | Caridi Gianluca; Dagnino Monica; Trivelli Antonella; Emma Francesco; Perfumo Francesco; Ghiggeri Gian Marco |
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| Institution: | 1 Laboratory on Pathophysiology of Uremia and, 2 Renal Section, Istituto Giannina Gaslini, Genova, and 3 Nephrology Section, Ospedale Bambin Gesù, Roma, Italy |
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| Abstract: | |
Introduction
| Nephronophthisis (NPHP) is an autosomal recessive disease withprevalent renal manifestations, characterized by occasionalcysts in medulla and severe tubulo-interstitial fibrosis, evolvingto end-stage renal failure 1]. It represents the most frequentcause of uraemia in children, with major clinical, physiologicaland social consequences including high costs for substitutiveapproaches and renal transplant. NPHP is a clinical and geneticheterogeneous disease with at least five genes (NPHP1–5)identified and variable extra-renal manifestations 2–6].Retinal dysfunction constituting Senior Loken syndrome (SLS1–5)is the most common association 1]. Other organ defects identifyspecific subsets such as liver fibrosis in NPHP3 and situs inversusin NPHP2. NPHP1 OMIM
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| Keywords: | nephronophthisis mutation analysis |
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