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Titel:

Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort study.

Dokumenttyp:
Observational Study; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Boeckhaus, Jan; Hoefele, Julia; Riedhammer, Korbinian M; Nagel, Mato; Beck, Bodo B; Choi, Mira; Gollasch, Maik; Bergmann, Carsten; Sonntag, Joseph E; Troesch, Victoria; Stock, Johanna; Gross, Oliver
Abstract:
BACKGROUND: Angiotensin-converting enzyme inhibitors (ACEis) have evolved as a first-line therapy for delaying end-stage renal failure (ESRF) in Alport syndrome (AS). The present study tested the hypothesis of a superior nephroprotective potential of an early ACEi intervention, examining a cohort with the COL4A5 missense variant p.(Gly624Asp). METHODS: In this observational cohort study (NCT02378805), 114 individuals with the identical gene variant were explored for age at ESRF and life expectan...     »
Zeitschriftentitel:
Nephrol Dial Transplant
Jahr:
2022
Band / Volume:
37
Heft / Issue:
12
Seitenangaben Beitrag:
2496-2504
Volltext / DOI:
doi:10.1093/ndt/gfac006
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/35022790
Print-ISSN:
0931-0509
TUM Einrichtung:
Institut für Humangenetik; Professur für Nephrologie (Prof. Heemann)
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