Pirson Y, Rhys C, Snyers B
Recurrent corneal erosion associated with Alport
syndrome
Am Soc Nephrol
J Am Soc Nephrol (abstract)
(Sep) 7:1620 1996
The authors describe recurrent ocular erosions in patients with
X-linked and autosomal recessive forms of Alport syndrome. Following
initial observations in three brothers, they reviewed the histories of
35 patients with Alport syndrome and end stage renal disease. Nineteen
of these patients had X-linked whereas the remaining patients had the
autosomal recessive form.
The investigators found that five patients (nearly 15%) had recurrent
corneal erosions, which was far higher than the general population.
The authors conclude that recurrent corneal erosions should be added
to the list of ocular abnormalities seen in Alport syndrome.
Comment: This abstract shows what a group of perceptive
investigators can do with a clinical finding. Instead of stopping at
reporting on recurrent ocular erosions in the original cohort of
patients, they reviewed the experience of 35 other patients and
concluded that recurrent ocular erosions are not an infrequent finding
in patients with Alport syndrome.
The availability of molecular and genetic techniques have greatly
improved our understanding of Alport syndrome. It is a disorder of the
basement membrane affecting the type IV collagen chains. In the
glomerular basement membrane, six distinct chains, a1 to a6, all
distinct gene products, participate in the synthesis of type IV
collagen. Alport syndrome is characterized by many abnormalities in
the gene of a5 chain of type IV collagen, including deletions and
missense mutations. It can be X-linked (with predominant manifestation
in males), or autosomal recessive, the latter being the rarer form. In
addition to renal manifestations such as hematuria, renal failure,
Alport syndrome is accompanied by disorders in the basement membranes
of the cochlea (deafness) and the eye. A rare association of Alport
syndrome with diffuse leiomyomatosis has also been reported. The
ocular manifestations include anterior lenticonus, pigmentary changes
around the macula, and corneal endothelial vesicles (posterior
polymorphous dystrophy). The genetic, histologic and clinical aspects
of this disease have been elegantly reviewed recently (Kashtan CE and
Michael AF, Kidney Int 50:1445 - 1463, 1996).
The importance of the abstract under review is that it adds a
new finding to the list of ocular abnormalities seen in Alport
syndrome. It would be of great interest to study the pathology of the
corneal basement membrane, including distribution of individual
collagen chains, in these patients. (B.S. Kasinath, M.D.,
University of Texas at San Antonio)
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Am Soc Nephrol
Proteinuria/Hematuria :
Hereditary hematuria/proteinuria
CRF by organ system :
HEENT