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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Are The Symptoms Of Cystinosis?

My 20 year old daughter has been to the dr several times for what she thought were uti came back negative she was referred to a urologist who is treating her for her bladder with primsol 10ml every other day it is very painful when she urinates someone told me this may be another condition called cystinosis would this be a system of that
Wed, 6 Jun 2018
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Internal Medicine Specialist,  's  Response
Hello and Welcome to ‘Ask A Doctor’ service. I have reviewed your query and here is my advice.

Cystinosis is highly unlikely. Pain while urinating is not suggestive of cystinosis.

Cystinosis is a rare genetic disorder in which an amino acid cystine accumulates in various organs. There are 3 types of cystinosis based on onset of the disease: infantile type (diagnosed at a very young age), adolescent or intermediate type (symptom onset 10-20 years) and adult cystinosis (symptom onset middle age). The infantile type affects mainly kidneys, the adolescent type affects both kidneys and eyes, and adult type affects eyes only. The disease may also affect different organs in the body and symptoms vary greatly from person to person based on age of onset, timely diagnosis and treatment. Cystinosis is initially diagnosed by urine analysis and eye examination. The diagnosis is confirmed by measuring cystine levels in white blood cells or by genetic testing. The disease is mainly treated with Cysteamine, which decreases cystine levels in the organ and tissues. Symptomatic treatment is indicated depending on organs involved.

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What Are The Symptoms Of Cystinosis?

Hello and Welcome to ‘Ask A Doctor’ service. I have reviewed your query and here is my advice. Cystinosis is highly unlikely. Pain while urinating is not suggestive of cystinosis. Cystinosis is a rare genetic disorder in which an amino acid cystine accumulates in various organs. There are 3 types of cystinosis based on onset of the disease: infantile type (diagnosed at a very young age), adolescent or intermediate type (symptom onset 10-20 years) and adult cystinosis (symptom onset middle age). The infantile type affects mainly kidneys, the adolescent type affects both kidneys and eyes, and adult type affects eyes only. The disease may also affect different organs in the body and symptoms vary greatly from person to person based on age of onset, timely diagnosis and treatment. Cystinosis is initially diagnosed by urine analysis and eye examination. The diagnosis is confirmed by measuring cystine levels in white blood cells or by genetic testing. The disease is mainly treated with Cysteamine, which decreases cystine levels in the organ and tissues. Symptomatic treatment is indicated depending on organs involved. Hope I have answered your query. Let me know if I can assist you further. Thank you.