Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\23666417
.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Curr+Opin+Nephrol+Hypertens
2013 ; 22
(4
): 427-31
Nephropedia Template TP
gab.com Text
Twit Text FOAVip
Twit Text #
English Wikipedia
Update on cystinuria
#MMPMID23666417
Sumorok N
; Goldfarb DS
Curr Opin Nephrol Hypertens
2013[Jul]; 22
(4
): 427-31
PMID23666417
show ga
PURPOSE OF REVIEW: Cystinuria is a rare genetic disease with increased urinary
excretion of the poorly soluble amino acid cystine. It can lead to significant
morbidity in affected patients due to the often large and recurrent resulting
kidney stones. Treatment is focused on the prevention of stone formation. There
have been few advances in the available therapeutic options for the disorder in
the last 15-20 years. RECENT FINDINGS: Although no new treatments have emerged in
the prevention of cystinuria in recent years, several developments hold promise
for advancing the field of caring for affected patients. A new method of
measuring urinary cystine and estimating potential for stone formation, called
cystine capacity, may prove to be a useful tool in monitoring the disease. The
discoveries of the mutations that cause cystinuria have led to a new
classification system based on genotype that is more accurate than the prior
phenotypic one. The finding of new compounds that inhibit cystine crystal growth
in vitro, now being tested in animal models, may lead to new potential therapies
in years to come. The Rare Kidney Stone Consortium has developed a registry and
hopes to lead further efforts in dealing with cystinuria. SUMMARY: With several
recent advances in the monitoring and treatment of cystinuria, and the gathering
of clinical patient data, there are now opportunities for new management
protocols and therapies.
free
free
free
