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What is the prevalence of Cystinuria?

How many people does Cystinuria affect? Does it have the same prevalence in men and women? And in the different countries?

Prevalence of Cystinuria

Cystinuria is a rare genetic disorder characterized by the impaired reabsorption of the amino acid cystine in the kidneys, leading to the formation of cystine stones in the urinary tract. While exact prevalence rates vary across populations, it is estimated to affect approximately 1 in every 7,000 individuals worldwide. This condition is typically inherited in an autosomal recessive manner, meaning both parents must carry a mutated gene for their child to be affected. Early diagnosis and management are crucial to prevent complications and improve quality of life for individuals with cystinuria.

Cystinuria is a rare genetic disorder characterized by the impaired reabsorption of the amino acid cystine in the kidneys, leading to the formation of cystine stones in the urinary tract. The prevalence of Cystinuria varies among different populations and geographical regions.


While it is challenging to provide an exact prevalence rate, studies suggest that Cystinuria affects approximately 1 in every 7,000 to 10,000 individuals worldwide. However, it is important to note that this estimate may vary due to underdiagnosis or misdiagnosis of the condition.


Cystinuria is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected. The condition is more commonly observed in individuals of Caucasian descent, particularly those of Jewish ancestry.


Although Cystinuria is considered rare, it is crucial to raise awareness about this condition as early diagnosis and appropriate management can help prevent complications and improve the quality of life for affected individuals.


Diseasemaps
3 answers
It affects about 1 out of 10,000, and has an equal presence in male and female.

Posted Jul 14, 2018 by Teasley 2500
1 in 7,000 to 1 in 10,000 people in the US. Highest known prevalence is among Libyan Jews; 1 in 2,500. Equal between men and women.

Posted Jan 18, 2022 by Johnny 2100

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Our son is the one with Cystinuria, we discovered his stones in 2017 when he was 5 years old. 
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