TY - JOUR
T1 - Alport syndrome
T2 - a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group
AU - Kashtan, Clifford E.
AU - Ding, Jie
AU - Garosi, Guido
AU - Heidet, Laurence
AU - Massella, Laura
AU - Nakanishi, Koichi
AU - Nozu, Kandai
AU - Renieri, Alessandra
AU - Rheault, Michelle
AU - Wang, Fang
AU - Gross, Oliver
N1 - Publisher Copyright:
© 2018 International Society of Nephrology
PY - 2018/5
Y1 - 2018/5
N2 - Mutations in the genes COL4A3, COL4A4, and COL4A5 affect the synthesis, assembly, deposition, or function of the collagen IV α345 molecule, the major collagenous constituent of the mature mammalian glomerular basement membrane. These mutations are associated with a spectrum of nephropathy, from microscopic hematuria to progressive renal disease leading to ESRD, and with extrarenal manifestations such as sensorineural deafness and ocular anomalies. The existing nomenclature for these conditions is confusing and can delay institution of appropriate nephroprotective therapy. Herein we propose a new classification of genetic disorders of the collagen IV α345 molecule with the goal of improving renal outcomes through regular monitoring and early treatment.
AB - Mutations in the genes COL4A3, COL4A4, and COL4A5 affect the synthesis, assembly, deposition, or function of the collagen IV α345 molecule, the major collagenous constituent of the mature mammalian glomerular basement membrane. These mutations are associated with a spectrum of nephropathy, from microscopic hematuria to progressive renal disease leading to ESRD, and with extrarenal manifestations such as sensorineural deafness and ocular anomalies. The existing nomenclature for these conditions is confusing and can delay institution of appropriate nephroprotective therapy. Herein we propose a new classification of genetic disorders of the collagen IV α345 molecule with the goal of improving renal outcomes through regular monitoring and early treatment.
KW - Alport syndrome
KW - chronic kidney disease
KW - proteinuria
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U2 - 10.1016/j.kint.2017.12.018
DO - 10.1016/j.kint.2017.12.018
M3 - Article
C2 - 29551517
AN - SCOPUS:85043759128
SN - 0085-2538
VL - 93
SP - 1045
EP - 1051
JO - Kidney international
JF - Kidney international
IS - 5
ER -
