What is the inheritance pattern of cystinuria?

Cystinuria follows an autosomal recessive inheritance pattern. This means that for a person to express the condition, they must inherit two copies of the mutated gene, one from each parent. If only one mutated gene is inherited, the individual is considered a carrier and typically does not exhibit symptoms of the disorder.

In cystinuria, the defect affects the renal tubules’ ability to reabsorb cystine and other amino acids, leading to elevated levels of cystine in the urine. This can result in the formation of cystine stones in the kidneys. Parents who are carriers usually do not show symptoms, but they can pass the mutation to their offspring.

Understanding this inheritance pattern is essential for genetic counseling, as each child of two carrier parents has a 25% chance of inheriting the condition and a 50% chance of being a carrier. This knowledge aids in managing the condition effectively and helps in making informed decisions about family planning.