Sistin Taşı Olan Çocuk Hastaların Değerlendirilmesi: Tek Merkez Deneyimi

Öz

Giriş: Sistinüri nadir görülen bir genetik hastalıktır. Birçok hasta, önemli ölçüde tekrarlayan ürolitiyazis, tekrarlayan cerrahi müdahaleler ve ilerleyici böbrek yetmezliği ile karşı karşıya kalmaktadır. Bu çalışmada sistin taşı olan hastaların sonuçları değerlendirildi.

Gereç ve Yöntemler: Çocuk Nefroloji Bölümümüzde, yaşları 3 ay ile 18 arasında değişen, sistin taşı olan toplam 26 sistinürili hasta retrospektif olarak incelendi.

Bulgular: Hastaların, tanı anındaki ortalama yaşı 45.2 ± 45.5 aydı ve % 88,5'i erkekti. On altı (% 62) çocukta tekrarlayan idrar yolu enfeksiyonu vardı. Sadece 10 (% 38) hastada ek olarak diğer metabolik anormallikler mevcuttu. Tedavi ile idrar pH'sının anlamlı olarak arttığı saptandı ve idrar pH ≥ 6.5 olan hastalarda taş tekrarlama sayısı daha düşük bulundu. Son-geliş serum kreatinin düzeyi ile cerrahi müdahale sayısı arasında anlamlı bir pozitif korelasyon mevcuttu. Son-vizit eGFR ile cerrahi girişim sayısı arasında anlamlı bir ilişki bulunmazken, toplam cerrahi girişim sayısı arttıkça eGFR değerleri azalmaktaydı. Takip süresi sonunda 10 hastada (% 38) taş olayı görülmedi ve tüm hastalarda hasta-yılı başına taş olayı 0.36'dı. Çalışmanın başlangıcında düşük eGFR'li dört hastanın eGFR’sinin takipte tedavi ile normale geldiği görüldü.

Sonuç: Sistinüri, düzgün kontrol altına alınmazsa önemli morbiditeye sahiptir. Tüm tedavilere rağmen sistinüride böbrek yetmezliği gelişebileceği akılda tutulmalı ve minimal invaziv seçenekler düşünülerek cerrahi tedavi planlanmalıdır.

Anahtar Kelimeler

• Çocuk
• sistinüri
• Ürolitiazis
• Böbrek taşı

Evaluation of Children with Cystine Stones: A single-Center Experience

Öz

Introduction: Cystinuria is a rare genetic disorder. Many patients suffer from significant recurrent urolithiasis, repeated surgical interventions and the risk of progressive renal impairment. In the current study, the outcomes of patients with cystine stones were investigated.

Methods: A total of Twenty-six cystinuria patients with cystine stones, aged between 3 months and 18 years, in our Pediatric Nephrology Department, were retrospectively analyzed.

Results: The mean age of patients at diagnosis was 45.2±45.5 months and 88,5% were male. Sixteen (62%) children had recurrent urinary tract infections. Only 10 (38%) patients revealed additional metabolic abnormalities. The urinary pH had significantly increased with treatment and the number of stone recurrence was lower in the patients with urinary pHs ≥ 6.5. There was a significant positive correlation between the last-visit serum creatinine level and the number of surgical interventions. There was not a significant correlation between the last-visit eGFR and the number of surgical interventions, on the other hand, eGFR values decreases as the total number of surgical interventions increases. No stone events were observed at the end of the follow-up period in 10 patients (38%) and the stone events per patient-year was 0.36 for all patients. Four patients with low eGFRs at the beginning of the study get normal with treatment after the follow-up period.

Conclusion: Cystinuria has significant morbidity if not properly controlled. Despite all treatments, it should be kept in mind that renal impairment may develop in cystinuria and surgical treatment should be planned by considering minimally invasive options.

Anahtar Kelimeler

• child
• cystinuria
• Urolithiasis
• Kidney stones

Kaynakça

1. References 1. Goodyer P, Saadi I, Ong P, et al. Cystinuria subtype and the risk of nephrolithiasis. Kidney Int. 1998;54(1):56-61.
2. 2. Rezaee ME, Rule AD, Pais VM Jr. What are the main challenges to the pharmacological management of cystinuria? Expert Opin Pharmacother. 2020; 21(2):131-133.
3. 3. Claes DJ, Jackson E. Cystinuria: mechanisms and management. Pediatr Nephrol. 2012;27(11):2031-2038.
4. 4. Knoll T, Zöllner A, Wendt-Nordahl G, et al. Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up. Pediatr Nephrol. 2005; 20(1):19-24.
5. 5. Eggermann T, Venghaus A, Zerres K. Cystinuria: an inborn cause of urolithiasis. Orphanet J Rare Dis.2012; 5;7:19.
6. 6. Aydogdu SD, Kirel B, Coskun T, et al. Prevalence of cystinuria among elementary schoolchildren in Eskisehir, Turkey. Scand J Urol Nephrol.2009;43(2):138-141.
7. 7. Tanzer F, Ozgur A, Bardakci F. Type I cystinuria and its genetic basis in a population of Turkish school children. Int J Urol. 2007;14(10):914-917.
8. 8. Sumorok N, Goldfarb DS. Update on cystinuria. Curr Opin Nephrol Hypertens. 2013;22(4):427-431.

9. 9. Asplin DM, Asplin JR. The Interaction of thiol drugs and urine pH in the treatment of cystinuria. J Urol. 2013; 189(6):2147-2151.
10. 10. Ahmed K, Khan MS, Thomas K, et al. Management of cystinuric patients: an observational, retrospective, single-centre analysis. Urol Int.2008; 80(2):141-144.
11. 11. Fjellstedt E, Denneberg T, Jeppsson JO, et al. A comparison of the effects of potassium citrate and sodium bicarbonate in the alkalinization of urine in homozygous cystinuria. Urol Res.2001;29(5):295-302.
12. 12. Goldfarb DS. Potential pharmacologic treatments for cystinuria and for calcium stones associated with hyperuricosuria. Clin J Am Soc Nephrol.2011;6(8):2093-2097.
13. 13. Lindell A, Denneberg T, Edholm E, et al. The effect of sodium intake on cystinuria with and without tiopronin treatment. Nephron.1995;71(4):407-415.
14. 14. Kum F, Wong K, Game D, et al. Hypertension and renal impairment in patients with cystinuria: findings from a specialist cystinuria centre. Urolithiasis.2019; 47(4):357-363.
15. 15. Nalcacioglu H, Ozden E, Genc G, et al. An uncommon cause of acute kidney injury in young children: cystinuria. J Pediatr Urol.2013; 9(1):e58-63.
16. 16. Lindell A, Denneberg T, Granerus G. Studies on renal function in patients with cystinuria. Nephron.1997; 77(1):76-85.
17. 17. Eisner BH, Goldfarb DS, Baum M, et al. Evaluation and medical management of patients with cystine nephrolithiasis: a consensus statement. J Endourol. 2020;17. doi: 10.1089/end.2019.0703.
18. 18. Shen L, Cong X, Zhang X, et al. Clinical and genetic characterization of Chinese pediatric cystine stone patients. J Pediatr Urol.2017;13(6):629.e1-629.e5. doi: 10.1016/j.jpurol.2017.05.021.
19. 19. Shen L, Zhun H, Cong X, et al. Comparison of renal function and metabolic abnormalities of cystine stone patients and calcium oxalate stone patients in China. World J Urol.2013;31(5):1219-1223.
20. 20. Gürgöze MK, Sarı MY. Results of medical treatment and metabolic risk factors in children with urolithiasis. Pediatr Nephrol. 2011;26:933-937.
21. 21. Tekin A, Tekgul S, Atsu N, et al. Cystine calculi in children: the results of a metabolic evaluation and response to medical therapy. J Urol.2001; 165(6 Pt 2):2328-30.
22. 22. Izol V, Aridoğan IA, Karsli O, et al. J Pediatric Urol.2013;9(6 Pt B)1218-1222.
23. 23. Akakura K, Egoshi K, Ueda T, et al. The long-term outcome of cystinuria in Japan. Urol Int.1998;61(2):86-89.
24. 24. Chow GK, Streem SB. Medical treatment of cystinuria: results of contemporary clinical practice. J Urol.1996;156(5):1576-8.
25. 25. Ertan P, Tekin G, Oger N, et al. Metabolic and Demographic characteristics of children with urolithiasis in Western Turkey. Urol Res. 2011;39: 105-110.
26. 26. Assimos DG, Leslie SW, Ng C, et al. The impact of cystinuria on renal function. J Urol .2002; 168(1):27-30