What is Cystinosis?

Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine.[1] It is a genetic disorder that typically follows an autosomal recessive inheritance pattern. Cystinosis is the most common cause of Fanconi syndrome in the pediatric age group. Fanconi syndrome occurs when the function of cells in renal tubules are impaired, leading to abnormal amounts of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium and phosphates.

Questions and answers on "Cystinosis"

i am 17 years old male from india. i presented with genu valgum, hearing loss and kidney failure which was detected 8 months back but is on...

doctor1 MD


Hearing loss along with renal failure and rickets(suggested by knee deformity) can happen in condition like cystinosis, alport syndrome and...

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Can a kidney stone cause an enlarged liver?

doctor1 MD


It is highly unlikely that a simple kidney stone can directly result in liver enlargement.

But in cases of Renal failure due to Kidney stone...

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hi doctor my daughter is 3 months old. she has UTI and she was on antibiotics(Septran syrup ).she has completed the course today. But still i feel...

doctor1 MD

Hello ,
Welcome to Healthcare Magic forum.
Sticky urine is caused by mainly presence of glucose or sugars in urine also called as glycosuria .

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