I recently saw a patient in clinic with long-standing
hematuria with numerous family members on her mother’s side with hematuria. She now presented with proteinuria but stable
renal function. Collagen IVa disease was
highly suspected and genetic sequencing identified a heterozygous carrier for a
previously characterized pathogenic mutation in Col4a5.
heterozygous for X-linked Alport’s syndrome, I wondered, “Who is Dr. Alport?”.
South Africa who attained his medical training in Edinburgh, Scotland. He had
many different interests initially studying malaria abroad and then practicing
medicine in London before becoming a Professor in Egypt where he fought for the
care of poor patients. He showed that
with careful observation one can provide valuable insights into a specific
hereditary hemorrhagic nephritis.
Initially, William Howship Dickinson described a family with 11 out of
16 members with albuminuria in 1875.
Subsequent studies by Guthrie and Hurst identified families with
hematuria and kidney disease of varying severity. Dr. Alport saw a patient from the
Guthrie/Hurst cohort which he further studied and published with the title,
“Hereditary Familial Congenital Haemorrhagic Nephritis”, in the British Medical Journal in 1927 which led to the identification of the disease as Alport’s syndrome.
family had hematuria but did not develop edema, heart failure, and kidney
failure, a fate reserved for a selected few male members of the family. He also noted numerous female members with
profound deafness that at time was not associated with hematuria. Though he acknowledged the hereditary nature
of this disease, he also found hematuria and albuminuria were exacerbated by
streptococcal infection which he had limited success in recreating in
context for our current understanding of human disease. By observing the association of deafness in
families with hereditary hematuria, Dr. Alport brought to light a key
identifier of the disease entity. This
identification ultimately led to the disease to be associated with his name though
the renal phenotype of familial hematuria was discovered by prior