Description of familial kidney disease

Yosuke Hirakawa
Division of Nephrology and Endocrinology, the University of Tokyo Hospital, Japan

Alport syndrome, characterized by progressive renal failure, hearing impairment, and ocular changes, is a representative genetic kidney disease interpreted nowadays as a glomerular disease arising from genetic mutations in Col4A3, Col4A4, or Col4A5. Alport syndrome has a long history, dating back to 1927 when Arthur Cecil Alport, a South African physician, identified this disease in a British family (1). Cases of familial nephritis, however, were reported even earlier; William Howship Dickinson was an English physician who published several case reports of kidney diseases at that time (2). He described familial cases of albuminuria as early as 1875. Dr. Dickinson was “a well-rounded physician,” and because of his involvement in a children’s hospital, he described hereditary albuminuria in four generations of a single family (3). His observations on familial albuminuria highlighted genetic cases of kidney diseases and contributed to the discovery of Alport’s disease.

References

(1) Alport Cecil A. Hereditary Familial Congenital Haemorrhagic Nephritis, Br Med J. 1927; 1(3454): 504–506.

(2) Dickinson W. H. Notes of four cases of intermittent haematuria. Lancet 1865;1: 568-9.

(3) Obituary. William Howship Dickenson, M.D.Cantab., F.R.C.P.Lond. Br Med J 1913;1:141

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