Skip to main content
Top
Published in: Current Urology Reports 8/2023

20-04-2023 | Penicillamine

Outcomes of Paediatric Cystine Stone Management: Results of a Systematic Review

Authors: Francesco Ripa, Amelia Pietropaolo, Robert Geraghty, Stephen Griffin, Paul Cook, Bhaskar Somani

Published in: Current Urology Reports | Issue 8/2023

Login to get access

Abstract

Purpose of Review

We wanted to analyse the outcomes of surgical (SWL, URS, PCNL) and medical management of cystine stones in the paediatric population in terms of stone-free status and complication rates, based on all the available literature evidence.

Recent Findings

A systematic review of literature was performed for all studies with paediatric cystine stone management. Twelve studies met the eligibility criteria, of which 4 analysed outcomes of SWL, 2 of URS and 3 of PCNL and 3 focused on the effect of either alkalising agents (potassium citrate, citric acid) or cysteine-binding thiol (CBT) agents (tiopronin, penicillamine). The reported SFR in studies ranged from 50 to 83%, 59 to 100% and 63 to 80.6%, with a complication rate of 2.8–51%, 14–27% and 12.9–15.4% with SWL, URS and PCNL, respectively.

Summary

Paediatric cystine stones treatment should aim at complete stone clearance, preservation of renal function and prevention of further recurrences. SWL achieves inferior results in case of cystine stones. URS and PCNL are safe and effective procedures in the paediatric population, with a low rate of major complications. Adherence to medical prevention therapies may prolong recurrence-free periods.
Literature
2.
go back to reference •• Servais A, Thomas K, dello Strologo L, et al. Cystinuria: clinical practice recommendation. Kidney Int. 2021;99:48–58. These comprehensive clinical statements from a consensus conference of experts include up-to-date recommendations on genetic diagnosis, imaging, surgical and medical treatment and follow up modalities of cystinuria.CrossRefPubMed •• Servais A, Thomas K, dello Strologo L, et al. Cystinuria: clinical practice recommendation. Kidney Int. 2021;99:48–58. These comprehensive clinical statements from a consensus conference of experts include up-to-date recommendations on genetic diagnosis, imaging, surgical and medical treatment and follow up modalities of cystinuria.CrossRefPubMed
3.
go back to reference Grivas N, Thomas K, Drake T, Donaldson J, Neisius A, Petřík A, Ruhayel Y, Seitz C, Türk C, Skolarikos A. Imaging modalities and treatment of paediatric upper tract urolithiasis: a systematic review and update on behalf of the EAU urolithiasis guidelines panel. J Pediatr Urol. 2020;16:612–24.CrossRefPubMed Grivas N, Thomas K, Drake T, Donaldson J, Neisius A, Petřík A, Ruhayel Y, Seitz C, Türk C, Skolarikos A. Imaging modalities and treatment of paediatric upper tract urolithiasis: a systematic review and update on behalf of the EAU urolithiasis guidelines panel. J Pediatr Urol. 2020;16:612–24.CrossRefPubMed
4.
go back to reference Reeves T, Griffin S, Pietropaolo A, Somani BK. Feasibility of dusting and pop-dusting using high-power (100W) holmium YAG (HO:YAG) laser in treatment of paediatric stones: Results of first worldwide clincial study. Cent European J Urol. 2019;72:398–401.PubMedPubMedCentral Reeves T, Griffin S, Pietropaolo A, Somani BK. Feasibility of dusting and pop-dusting using high-power (100W) holmium YAG (HO:YAG) laser in treatment of paediatric stones: Results of first worldwide clincial study. Cent European J Urol. 2019;72:398–401.PubMedPubMedCentral
6.
go back to reference Goren MR, Goren V, Ozer C. Ultrasound-guided shockwave lithotripsy reduces radiation exposure and has better outcomes for pediatric cystine stones. Urol Int. 2017;98:429–35.CrossRefPubMed Goren MR, Goren V, Ozer C. Ultrasound-guided shockwave lithotripsy reduces radiation exposure and has better outcomes for pediatric cystine stones. Urol Int. 2017;98:429–35.CrossRefPubMed
7.
go back to reference Landau EH, Shenfeld OZ, Pode D, et al. Extracorporeal shock wave lithotripsy in prepubertal children: 22-year experience at a single institution with a single lithotriptor. In: Journal of Urology. Elsevier Inc., 2009. pp. 1835–1840. Landau EH, Shenfeld OZ, Pode D, et al. Extracorporeal shock wave lithotripsy in prepubertal children: 22-year experience at a single institution with a single lithotriptor. In: Journal of Urology. Elsevier Inc., 2009. pp. 1835–1840.
8.
go back to reference Yuruk E, Tuken M, Gonultas S, Colakerol A, Cakir OO, Binbay M, Sarica K, Muslumanoglu AY. Retrograde intrarenal surgery in the management of pediatric cystine stones. J Pediatr Urol. 2017;13:487.e1-487.e5.CrossRefPubMed Yuruk E, Tuken M, Gonultas S, Colakerol A, Cakir OO, Binbay M, Sarica K, Muslumanoglu AY. Retrograde intrarenal surgery in the management of pediatric cystine stones. J Pediatr Urol. 2017;13:487.e1-487.e5.CrossRefPubMed
9.
go back to reference Quiroz Madarriaga Y, Badenes Gallardo A, Llorens de Knecht E, Motta Lang G, Palou Redorta J, BujonsTur A. Can cystinuria decrease the effectiveness of RIRS with high-power ho:yag laser in children? Outcomes from a tertiary endourology referral center. Urolithiasis. 2022;50:229–34.CrossRefPubMed Quiroz Madarriaga Y, Badenes Gallardo A, Llorens de Knecht E, Motta Lang G, Palou Redorta J, BujonsTur A. Can cystinuria decrease the effectiveness of RIRS with high-power ho:yag laser in children? Outcomes from a tertiary endourology referral center. Urolithiasis. 2022;50:229–34.CrossRefPubMed
10.
go back to reference Baydilli N, Tosun H, Akınsal EC, Gölbaşı A, Yel S, Demirci D. Effectiveness and complications of mini-percutaneous nephrolithotomy in children: one center experience with 232 kidney units. Turk J Urol. 2020;46:69–75.CrossRefPubMed Baydilli N, Tosun H, Akınsal EC, Gölbaşı A, Yel S, Demirci D. Effectiveness and complications of mini-percutaneous nephrolithotomy in children: one center experience with 232 kidney units. Turk J Urol. 2020;46:69–75.CrossRefPubMed
11.
go back to reference Kaygısız O, Türegün FA, Satar N, et al. Renal stone composition does not affect the outcome of percutaneous nephrolithotomy in children. World J Urol. 2018;36:1863–9.CrossRefPubMed Kaygısız O, Türegün FA, Satar N, et al. Renal stone composition does not affect the outcome of percutaneous nephrolithotomy in children. World J Urol. 2018;36:1863–9.CrossRefPubMed
12.
go back to reference Onal B, Dogan C, Citgez S, Argun B, Onder AU, Sever L, Caliskan S, Canpolat N, Tasdemir M, Erozenci A. Percutaneous nephrolithotomy in children with cystine stone: long-term outcomes from a single institution. J Urol. 2013;190:234–8.CrossRefPubMed Onal B, Dogan C, Citgez S, Argun B, Onder AU, Sever L, Caliskan S, Canpolat N, Tasdemir M, Erozenci A. Percutaneous nephrolithotomy in children with cystine stone: long-term outcomes from a single institution. J Urol. 2013;190:234–8.CrossRefPubMed
14.
go back to reference Slavković A, Radovanović M, Širić Z, Vlajković M, Stefanović V. Extracorporeal shock wave lithotripsy for cystine urolithiasis in children: outcome and complications. 2002. Slavković A, Radovanović M, Širić Z, Vlajković M, Stefanović V. Extracorporeal shock wave lithotripsy for cystine urolithiasis in children: outcome and complications. 2002.
15.
go back to reference Whatley A, Jones P, Aboumarzouk O, Somani BK. Safety and efficacy of ureteroscopy and stone fragmentation for pediatric renal stones: a systematic review. Transl Androl Urol. 2019;8:S442–7.CrossRefPubMedPubMedCentral Whatley A, Jones P, Aboumarzouk O, Somani BK. Safety and efficacy of ureteroscopy and stone fragmentation for pediatric renal stones: a systematic review. Transl Androl Urol. 2019;8:S442–7.CrossRefPubMedPubMedCentral
16.
go back to reference Somani BK, Griffin S. Ureteroscopy for paediatric calculi: the twin-surgeon model. J Pediatr Urol. 2018;14:73–4.CrossRefPubMed Somani BK, Griffin S. Ureteroscopy for paediatric calculi: the twin-surgeon model. J Pediatr Urol. 2018;14:73–4.CrossRefPubMed
17.
go back to reference Tekin A, Tekgul S, Atsu N, Sahin A, Bakkaloglu M. Cystine calculi in children: the results of a metabolic evaluation and response to medical therapy. 2001. Tekin A, Tekgul S, Atsu N, Sahin A, Bakkaloglu M. Cystine calculi in children: the results of a metabolic evaluation and response to medical therapy. 2001.
18.
go back to reference Izol V, Aridogan IA, Karsli O, Deger M, Satar N. The effect of prophylactic treatment with Shohl’s solution in children with cystinuria. J Pediatr Urol. 2013;9:1218–22.CrossRefPubMed Izol V, Aridogan IA, Karsli O, Deger M, Satar N. The effect of prophylactic treatment with Shohl’s solution in children with cystinuria. J Pediatr Urol. 2013;9:1218–22.CrossRefPubMed
19.
go back to reference DeBerardinis RJ, Coughlin CR, Kaplan P. Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children. J Urol. 2008;180:2620–3.CrossRefPubMedPubMedCentral DeBerardinis RJ, Coughlin CR, Kaplan P. Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children. J Urol. 2008;180:2620–3.CrossRefPubMedPubMedCentral
20.
go back to reference • Moore SL, Cook P, de Coninck V, Keller EX, Traxer O, Dragos L, Shergill IS, Somani BK. Outcomes and long-term follow-up of patients with cystine stones: a systematic review. Curr Urol Rep. 2019. https://doi.org/10.1007/s11934-019-0891-7. This is a systematic review on outcomes of surgical interventions, long-term renal function and compliance to medical therapy among patients with cystinuria.CrossRefPubMed • Moore SL, Cook P, de Coninck V, Keller EX, Traxer O, Dragos L, Shergill IS, Somani BK. Outcomes and long-term follow-up of patients with cystine stones: a systematic review. Curr Urol Rep. 2019. https://​doi.​org/​10.​1007/​s11934-019-0891-7. This is a systematic review on outcomes of surgical interventions, long-term renal function and compliance to medical therapy among patients with cystinuria.CrossRefPubMed
21.
go back to reference Tiselius HG. New horizons in the management of patients with cystinuria. Curr Opin Urol. 2010;20:169–73.CrossRefPubMed Tiselius HG. New horizons in the management of patients with cystinuria. Curr Opin Urol. 2010;20:169–73.CrossRefPubMed
22.
go back to reference Moore SL, Somani BK, Cook P. Journey of a cystinuric patient with a long-term follow-up from a medical stone clinic: necessity to be SaFER (stone and fragments entirely removed). Urolithiasis. 2019;47:165–70.CrossRefPubMed Moore SL, Somani BK, Cook P. Journey of a cystinuric patient with a long-term follow-up from a medical stone clinic: necessity to be SaFER (stone and fragments entirely removed). Urolithiasis. 2019;47:165–70.CrossRefPubMed
23.
go back to reference Thomas K, Wong K, Withington J, Bultitude M, Doherty A. Cystinuria - a urologist’s perspective. Nat Rev Urol. 2014;11:270–7.CrossRefPubMed Thomas K, Wong K, Withington J, Bultitude M, Doherty A. Cystinuria - a urologist’s perspective. Nat Rev Urol. 2014;11:270–7.CrossRefPubMed
24.
go back to reference Knoll T, Zöllner A, Wendt-Nordahl G, Michel MS, Alken P. Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up. Pediatr Nephrol. 2005;20:19–24.CrossRefPubMed Knoll T, Zöllner A, Wendt-Nordahl G, Michel MS, Alken P. Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up. Pediatr Nephrol. 2005;20:19–24.CrossRefPubMed
25.
go back to reference Alsagheer G, Abdel-Kader MS, Hasan AM, Mahmoud O, Mohamed O, Fathi A, Abass M, Abolyosr A. Extracorporeal shock wave lithotripsy (ESWL) monotherapy in children: predictors of successful outcome. J Pediatr Urol. 2017;13:515.e1-515.e5.CrossRefPubMed Alsagheer G, Abdel-Kader MS, Hasan AM, Mahmoud O, Mohamed O, Fathi A, Abass M, Abolyosr A. Extracorporeal shock wave lithotripsy (ESWL) monotherapy in children: predictors of successful outcome. J Pediatr Urol. 2017;13:515.e1-515.e5.CrossRefPubMed
26.
go back to reference Lu P, Wang Z, Song R, Wang X, Qi K, Dai Q, Zhang W, Gu M. The clinical efficacy of extracorporeal shock wave lithotripsy in pediatric urolithiasis: a systematic review and meta-analysis. Urolithiasis. 2015;43:199–206.CrossRefPubMed Lu P, Wang Z, Song R, Wang X, Qi K, Dai Q, Zhang W, Gu M. The clinical efficacy of extracorporeal shock wave lithotripsy in pediatric urolithiasis: a systematic review and meta-analysis. Urolithiasis. 2015;43:199–206.CrossRefPubMed
28.
go back to reference Quiroz Y, Somani BK, Tanidir Y, et al. Retrograde intrarenal surgery in children: evolution, current status, and future trends. J Endourol. 2022;36:1511–21.CrossRefPubMed Quiroz Y, Somani BK, Tanidir Y, et al. Retrograde intrarenal surgery in children: evolution, current status, and future trends. J Endourol. 2022;36:1511–21.CrossRefPubMed
29.
go back to reference Wang X, Zhang Y, Zhao F, Ji Z, Yang P, Li J, Tian Y. Learning curves of flexible ureteroscopy (275 cases) and prone percutaneous nephrolithotomy (73 cases) in pediatric stones: data from 348 children. J Endourol. 2022;36:1502–8.CrossRefPubMed Wang X, Zhang Y, Zhao F, Ji Z, Yang P, Li J, Tian Y. Learning curves of flexible ureteroscopy (275 cases) and prone percutaneous nephrolithotomy (73 cases) in pediatric stones: data from 348 children. J Endourol. 2022;36:1502–8.CrossRefPubMed
30.
go back to reference Ripa F, Tokas T, Griffin S, Ferretti S, BujonsTur A, Somani BK. Role of pediatric ureteral access sheath and outcomes related to flexible ureteroscopy and laser stone fragmentation: a systematic review of literature. Eur Urol Open Sci. 2022;45:90–8.CrossRefPubMedPubMedCentral Ripa F, Tokas T, Griffin S, Ferretti S, BujonsTur A, Somani BK. Role of pediatric ureteral access sheath and outcomes related to flexible ureteroscopy and laser stone fragmentation: a systematic review of literature. Eur Urol Open Sci. 2022;45:90–8.CrossRefPubMedPubMedCentral
32.
go back to reference Quhal F, al Faddagh A, Silay MS, Straub M, Seitz C. Paediatric stone management: innovations and standards. Curr Opin Urol. 2022;32:420–4.CrossRefPubMed Quhal F, al Faddagh A, Silay MS, Straub M, Seitz C. Paediatric stone management: innovations and standards. Curr Opin Urol. 2022;32:420–4.CrossRefPubMed
33.
go back to reference Ahmed K, Khan MS, Thomas K, Challacombe B, Bultitude M, Glass J, Tiptaft R, Dasgupta P. Management of cystinuric patients: an observational, retrospective, single-centre analysis. Urol Int. 2008;80:141–4.CrossRefPubMed Ahmed K, Khan MS, Thomas K, Challacombe B, Bultitude M, Glass J, Tiptaft R, Dasgupta P. Management of cystinuric patients: an observational, retrospective, single-centre analysis. Urol Int. 2008;80:141–4.CrossRefPubMed
34.
go back to reference Modersitzki F, Pizzi L, Grasso M, Goldfarb DS. Health-related quality of life (HRQoL) in cystine compared with non-cystine stone formers. Urolithiasis. 2014;42:53–60.CrossRefPubMed Modersitzki F, Pizzi L, Grasso M, Goldfarb DS. Health-related quality of life (HRQoL) in cystine compared with non-cystine stone formers. Urolithiasis. 2014;42:53–60.CrossRefPubMed
35.
go back to reference Parr JM, Desai D, Winkle D. Natural history and quality of life in patients with cystine urolithiasis: a single centre study. BJU Int. 2015;116(Suppl 3):31–5.CrossRefPubMed Parr JM, Desai D, Winkle D. Natural history and quality of life in patients with cystine urolithiasis: a single centre study. BJU Int. 2015;116(Suppl 3):31–5.CrossRefPubMed
36.
go back to reference Sahota A, Tischfield JA, Goldfarb DS, Ward MD, Hu L. Cystinuria: genetic aspects, mouse models, and a new approach to therapy. Urolithiasis. 2019;47:57–66.CrossRefPubMed Sahota A, Tischfield JA, Goldfarb DS, Ward MD, Hu L. Cystinuria: genetic aspects, mouse models, and a new approach to therapy. Urolithiasis. 2019;47:57–66.CrossRefPubMed
37.
38.
go back to reference Jones P, Bennett G, Aboumarzouk O, et al. Role of minimally invasive percutaneous nephrolithotomy techniques – micro and ultra-mini PCNL (<15F) in the pediatric population: a systematic review. J Endourol. 2017;31(9):816–24.CrossRefPubMed Jones P, Bennett G, Aboumarzouk O, et al. Role of minimally invasive percutaneous nephrolithotomy techniques – micro and ultra-mini PCNL (<15F) in the pediatric population: a systematic review. J Endourol. 2017;31(9):816–24.CrossRefPubMed
40.
go back to reference Karim SS, Hanna L, Geraghty R, et al. Role of pelvicalyceal anatomy in the outcomes of retrograde intrarenal surgery (RIRS) for lower pole stones: outcomes with a systematic review of literature. Urolithiasis. 2020;48(3):263–70.CrossRefPubMed Karim SS, Hanna L, Geraghty R, et al. Role of pelvicalyceal anatomy in the outcomes of retrograde intrarenal surgery (RIRS) for lower pole stones: outcomes with a systematic review of literature. Urolithiasis. 2020;48(3):263–70.CrossRefPubMed
41.
go back to reference Somani BK, Desai M, Traxer O, et al. Stone-free rate (SFR): a new proposal for defining levels of SFR. Urolithiasis. 2014;42(2):95.CrossRefPubMed Somani BK, Desai M, Traxer O, et al. Stone-free rate (SFR): a new proposal for defining levels of SFR. Urolithiasis. 2014;42(2):95.CrossRefPubMed
42.
go back to reference Geraghty RM, Jones P, Herrmann TRW, et al. Ureteroscopy is more cost effective than shock wave lithotripsy for stone treatment: systematic review and meta-analysis. WJU. 2018;36(11):1783–93. Geraghty RM, Jones P, Herrmann TRW, et al. Ureteroscopy is more cost effective than shock wave lithotripsy for stone treatment: systematic review and meta-analysis. WJU. 2018;36(11):1783–93.
Metadata
Title
Outcomes of Paediatric Cystine Stone Management: Results of a Systematic Review
Authors
Francesco Ripa
Amelia Pietropaolo
Robert Geraghty
Stephen Griffin
Paul Cook
Bhaskar Somani
Publication date
20-04-2023
Publisher
Springer US
Keyword
Penicillamine
Published in
Current Urology Reports / Issue 8/2023
Print ISSN: 1527-2737
Electronic ISSN: 1534-6285
DOI
https://doi.org/10.1007/s11934-023-01162-9

Other articles of this Issue 8/2023

Current Urology Reports 8/2023 Go to the issue