杉山　斉
   Department   Kawasaki college of Health Professions  ,
   Position   Professor
Article types 原著
Language English
Peer review Peer reviewed
Title A nationwide cross-sectional analysis of biopsy-proven Fabry nephropathy: the Japan Renal Biopsy Registry.
Journal Formal name：Clinical and experimental nephrology
Abbreviation：Clin Exp Nephrol
ISSN code：14377799/13421751
Domestic / ForeginForegin
Volume, Issue, Page 27(2),pp.141-150
Author and coauthor Makoto Nasu, Naoki Nakagawa, Shigeo Hara, Junko Yano, Yuka Kurokawa, Nao Nakamura, Hitoshi Yokoyama, Akira Shimizu, Hitoshi Sugiyama, Hiroshi Sato, Kei Fukami
Publication date 2023/02
Summary BACKGROUND:Fabry disease (FD) is an X-linked inherited disease where renal complications are associated with a poor prognosis. However, little is known about the prevalence of Fabry nephropathy (FN) in patients with chronic kidney disease (CKD). We extracted FN data from the Japan Renal Biopsy Registry, analyzed the prevalence of FN, and examined the correlation between clinical characteristics and renal involvement according to sex differences and hemi- and heterozygosity in patients with FD.METHODS:A total of 38,351 participants who underwent renal biopsy were retrospectively enrolled, and FN was determined. The clinical characteristics of FD patients were examined based on sex differences.RESULTS:Twenty-nine patients (0.076%) (19 males and 10 females, mean age: 43.7 ± 15.5 years old) were diagnosed with FN. Median estimated urinary protein (UP) and mean eGFR levels were 0.9 [interquartile range (IQR) [0.7-1.6] g/gCr and 67.1 ± 36.8 mL/min/1.73 m2, respectively. Mean systolic blood pressure (SBP) was 126.4 ± 17.1 mmHg and diastolic blood pressure was 76.1 ± 12.6 mmHg. An inverse correlation between eGFR and logarithm UP levels was observed (r2 = 0.23, p = 0.02), SBP was positively associated with logarithm UP (r2 = 0.34, p = 0.004) overall and inversely associated with eGFR (r2 = 0.25, p = 0.007) regardless of sex, and SBP was an independent determinant of proteinuria (p = 0.004) and eGFR (p = 0.007).CONCLUSIONS:The prevalence of biopsy-proven FN was 0.076%. Since SBP is associated with eGFR regardless of zygosity, strict SBP control might be necessary to prevent progression to end-stage kidney disease in both male and female patients with FN.
DOI 10.1007/s10157-022-02287-w
PMID 36329296