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- Title
CYSTINURIA – THE DIAGNOSIS AND MANAGEMENT.
- Authors
Adamović, vona; Adamović, Adriana; Knežević, Tamara; Ivković, Vanja
- Abstract
Background: Cystinuria is a rare genetic kidney stone disorder inherited in an autosomal recessive pattern. Patients with cystinuria have decreased reabsorption of filtered cystine in the proximal tubule of the kidney. It results from the malfunction of the specific membrane transport system located on the membrane of the renal proximal straight tubule. Due to limited cystine solubility, the main clinical presentation is formation of kidney stones. Patients have recurrent stone formation that can lead to chronic kidney disease. Aim: The aim is to present the diagnosis and management of cystinuria. Case Report: A 30-year-old patient was diagnosed with cystine nephrolithiasis after presenting with painful renal colic and macrohematuria. In 24-hour urine collection cystine was 1735 umol/dU (referent interval <316 umol/dU). He was treated with potassium citrate, dietary sodium restriction, urinary alkalinization and increased fluid intake. A concentration of cystine in 24-hour urine collection decreased at 1497 umol/dU, and after that, he was treated with tiopronin. Also, surgical therapy for stone removal was performed two times, due to urinary obstruction. Four years later, cystine concentration in the urine sample amounts to 79 mmol/mol crea (referent interval 3–17 mmol/mol crea). The ultrasound of the urinary tract showed 6 mm kidney stone in the right kidney and no dilatation of the canal system. The symptoms have decreased with continuous conservative treatment. Sometimes he experiences renal colics with pain and hematuria and sandstone urination. Conclusion: Cystinuria accounts for 1% to 2% of all urolithiasis in adults and 6% to 8% of urolithiasis in children. It should be suspected in every patient with urolithiasis, especially those with early-onset kidney stones (in childhood), large or recurrent kidney stones, and a family history of urolithiasis. After the diagnosis is confirmed, initial therapy is conservative. Tiopronin is a second-line therapy used to control the rate of cystine precipitation and excretion, therefore preventing kidney stone formation. The treatment should be continuous and permanent.
- Subjects
RENAL colic; KIDNEY stones; PROXIMAL kidney tubules; GENETIC disorders; SYMPTOMS
- Publication
Lijecnicki Vjesnik, 2023, Vol 145, p73
- ISSN
0024-3477
- Publication type
Article
- DOI
10.26800/LV-145-supl3-4