Cystinuria
ICD-10 E72.01 is a billable code used to indicate a diagnosis of cystinuria.
Cystinuria is a genetic metabolic disorder characterized by the excessive excretion of cystine, an amino acid, in the urine. This condition arises due to a defect in the renal tubular reabsorption of cystine and other dibasic amino acids, leading to the formation of cystine stones in the kidneys, ureters, and bladder. Patients with cystinuria often present with recurrent urinary tract infections, hematuria, and flank pain due to stone formation. The disorder is inherited in an autosomal recessive pattern, and its prevalence varies among different populations. Diagnosis is typically confirmed through urine tests that reveal elevated levels of cystine and other amino acids. Management strategies include increased fluid intake to dilute urine, dietary modifications to reduce cystine intake, and medications such as thiol drugs that can help dissolve cystine stones. In severe cases, surgical intervention may be necessary to remove large stones. Regular monitoring and follow-up are essential to prevent complications associated with stone disease.
Detailed records of stone analysis and management plans.
Patients presenting with flank pain and hematuria due to cystine stones.
Ensure documentation reflects the recurrent nature of stone disease.
Comprehensive metabolic evaluations and genetic testing results.
Patients with chronic kidney stones and metabolic abnormalities.
Document renal function tests and hydration status.
Used when confirming a diagnosis of cystinuria through genetic analysis.
Document the reason for testing and the specific genes analyzed.
Urologists and nephrologists should ensure genetic counseling is offered.
Cystinuria is primarily caused by a genetic defect affecting the renal tubular reabsorption of cystine and other dibasic amino acids, leading to excessive cystine in the urine.
