Stone recurrence among Indonesian kidney stone formers: a comprehensive analysis of genetic polymorphism, demographic, and clinical factors

Authors

  • Widi Atmoko Doctoral Program in Medical Sciences, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; Department of Urology, Faculty of Medicine, Universitas Indonesia, Cipto Mangunkusumo Hospital, Jakarta, Indonesia
  • Missy Savira Department of Urology, Faculty of Medicine, Universitas Indonesia, Cipto Mangunkusumo Hospital, Jakarta, Indonesia
  • Rosalina Fajriani Department of Urology, Faculty of Medicine, Universitas Indonesia, Cipto Mangunkusumo Hospital, Jakarta, Indonesia
  • Sevita Sathya Wistara Department of Urology, Faculty of Medicine, Universitas Indonesia, Cipto Mangunkusumo Hospital, Jakarta, Indonesia
  • Asmarinah Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia
  • Alida Roswita Harahap Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia
  • Fiastuti Witjaksono Department of Nutrition, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia
  • Retno Asti Werdhani Department of Community Medicine, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia
  • Ferry Safriadi Department of Urology, Faculty of Medicine, Universitas Padjadjaran, Hasan Sadikin Hospital, Bandung, Indonesia
  • Agus Rizal Ardy Hariandy Hamid Department of Urology, Faculty of Medicine, Universitas Indonesia, Cipto Mangunkusumo Hospital, Jakarta, Indonesia
  • Ponco Birowo Department of Urology, Faculty of Medicine, Universitas Indonesia, Cipto Mangunkusumo Hospital, Jakarta, Indonesia
  • Nur Rasyid Department of Urology, Faculty of Medicine, Universitas Indonesia, Cipto Mangunkusumo Hospital, Jakarta, Indonesia
  • Akmal Taher Department of Urology, Faculty of Medicine, Universitas Indonesia, Cipto Mangunkusumo Hospital, Jakarta, Indonesia

DOI:

https://doi.org/10.13181/mji.oa.247596

Keywords:

genetic polymorphism, Indonesia, kidney stone, metabolic, recurrence, risk factors

Abstract

BACKGROUND The recurrence rate of kidney stone disease (KSD) can exceed 50% within 5 years. This study aimed to investigate factors associated with stone recurrence based on single nucleotide polymorphisms (SNPs) of the calcium-sensing receptor (CaSR) rs1801725 and rs1042636, demographic, and clinical profiles.

METHODS We collected data on the demographic and clinical characteristics of 80 adult kidney stone formers from April 2021 to September 2022, including peripheral blood samples, morning and 24-hour urine, and 7-day water intake records. Real-time polymerase chain reaction was used to evaluate SNP. Comparisons were made between patients with recurrent and first-time stones.

RESULTS 41% of 80 patients have experienced stone recurrence. Recurrent stone formers exhibited significantly higher 24-hour urine calcium excretion (p = 0.03) and lower serum calcium levels (p = 0.019) than first-time stone formers. Hypocitraturia (100%), low urine volume (78%), and hyperoxaluria (55%) were the main abnormalities of all patients. No significant differences were found in CaSR gene polymorphisms and other demographic, biochemical, or clinical parameters.

CONCLUSIONS Recurrent stone formers had higher 24-hour urine calcium excretion and lower serum calcium levels. Other risk factors and CaSR polymorphisms may insignificantly affect KSD recurrence.

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References

Stamatelou K, Goldfarb DS. Epidemiology of kidney stones. Healthcare (Basel). 2023;11(3):424. https://doi.org/10.3390/healthcare11030424

Liu Y, Chen Y, Liao B, Luo D, Wang K, Li H, et al. Epidemiology of urolithiasis in Asia. Asian J Urol. 2018;5(4):205-14. https://doi.org/10.1016/j.ajur.2018.08.007

Baowaidan F, Zugail AS, Lyoubi Y, Culty T, Lebdai S, Brassart E, et al. Incidence and risk factors for urolithiasis recurrence after endourological management of kidney stones: a retrospective single-centre study. Prog Urol. 2022;32(8−9):601−7. https://doi.org/10.1016/j.purol.2022.02.010

Vaughan LE, Enders FT, Lieske JC, Pais VM, Rivera ME, Mehta RA, et al. Predictors of symptomatic kidney stone recurrence after the first and subsequent episodes. Mayo Clin Proc. 2019;94(2):202−10. https://doi.org/10.1016/j.mayocp.2018.09.016

Tamborino F, Cicchetti R, Mascitti M, Litterio G, Orsini A, Ferretti S, et al. Pathophysiology and main molecular mechanisms of urinary stone formation and recurrence. Int J Mol Sci. 2024;25(5):3075. https://doi.org/10.3390/ijms25053075

Prezioso D, Strazzullo P, Lotti T, Bianchi G, Borghi L, Caione P, et al. Dietary treatment of urinary risk factors for renal stone formation. A review of CLU Working Group. Arch Ital Urol Androl. 2015;87(2):105-20. Erratum in: Arch Ital Urol Androl. 2016;88(1):76. https://doi.org/10.4081/aiua.2015.2.105

Wang K, Ge J, Han W, Wang D, Zhao Y, Shen Y, et al. Risk factors for kidney stone disease recurrence: a comprehensive meta-analysis. BMC Urol. 2022;22(1):62. https://doi.org/10.1186/s12894-022-01017-4

Goldfarb DS, Avery AR, Beara-Lasic L, Duncan GE, Goldberg J. A twin study of genetic influences on nephrolithiasis in women and men. Kidney Int Rep. 2018;4(4):535-40. https://doi.org/10.1016/j.ekir.2018.11.017

Vladimirovna FT, Faridovich KК, Igorevich RV, Mikhailovich RL, Georgievich TD, Victorovich ED, et al. Genetic factors of polygenic urolithiasis. Urologia. 2020;87(2):57-64. https://doi.org/10.1177/0391560319898375

Mohammadi A, Shabestari AN, Baghdadabad LZ, Khatami F, Reis LO, Pishkuhi MA, et al. Genetic polymorphisms and kidney stones around the globe: a systematic review and meta-analysis. Front Genet. 2022;13:913908. https://doi.org/10.3389/fgene.2022.913908

Guha M, Bankura B, Ghosh S, Pattanayak AK, Ghosh S, Pal DK, et al. Polymorphisms in CaSR and CLDN14 genes associated with increased risk of kidney stone disease in patients from the eastern part of India. PLoS One. 2015;10(6):e0130790. https://doi.org/10.1371/journal.pone.0130790

Chen G, Hu C, Song Y, Xiu M, Liang W, Ou N, et al. Relationship between the ApaI (rs7975232), BsmI (rs1544410), FokI (rs2228570), and TaqI (rs731236) variants in the vitamin D receptor gene and urolithiasis susceptibility: an updated meta-analysis and trial sequential analysis. Front Genet. 2020;11:234. https://doi.org/10.3389/fgene.2020.00234

Atmoko W, Raharja PA, Birowo P, Hamid AR, Taher A, Rasyid N. Genetic polymorphisms as prognostic factors for recurrent kidney stones: a systematic review and meta-analysis. PLoS One. 2021;16(5):e0251235. https://doi.org/10.1371/journal.pone.0251235

Pan WH, Yeh WT. How to define obesity? evidence-based multiple action points for public awareness, screening, and treatment: an extension of Asian-Pacific recommendations. Asia Pac J Clin Nutr. 2008;17(3):370-4.

World Health Organization. Regional Office for the Western Pacific. The Asia-Pacific perspective: redefining obesity and its treatment [Internet]. Sydney: Health Communications Australia; 2000. Available from: https://iris.who.int/handle/10665/206936.

Ennis JL, Asplin JR. The role of the 24-h urine collection in the management of nephrolithiasis. Int J Surg. 2016;36(Pt D):633-37. https://doi.org/10.1016/j.ijsu.2016.11.020

Kumar R, Kapoor R, Mittal B, Kumar A, Mittal RD. Evaluation of urinary abnormalities in urolithiasis patients: a study from North India. Indian J Clin Biochem. 2003;18(2):209-15. https://doi.org/10.1007/BF02867389

Johnson EC, Péronnet F, Jansen LT, Capitan-Jiménez C, Adams JD, Guelinckx I, et al. Validation testing demonstrates efficacy of a 7-day fluid record to estimate daily water intake in adult men and women when compared with total body water turnover measurement. J Nutr. 2017;147(10):2001−7. https://doi.org/10.3945/jn.117.253377

Harris PA, Taylor R, Thielke R, Payne J, Gonzalez N, Conde JG. Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform. 2009;42(2):377-81. https://doi.org/10.1016/j.jbi.2008.08.010

Trinchieri A, Ostini F, Nespoli R, Rovera F, Montanari E, Zanetti G. A prospective study of recurrence rate and risk factors for recurrence after a first renal stone. J Urol. 1999;162(1):27-30. https://doi.org/10.1097/00005392-199907000-00007

Daudon M, Jungers P, Bazin D, Williams JC Jr. Recurrence rates of urinary calculi according to stone composition and morphology. Urolithiasis. 2018;46(5):459−70. https://doi.org/10.1007/s00240-018-1043-0

Peerapen P, Thongboonkerd V. Protective cellular mechanism of estrogen against kidney stone formation: a proteomics approach and functional validation. Proteomics. 2019;19(19):e1900095. https://doi.org/10.1002/pmic.201900095

Gillams K, Juliebø-Jones P, Juliebø SØ, Somani BK. Gender differences in kidney stone disease (KSD): findings from a systematic review. Curr Urol Rep. 2021;22(10):50. https://doi.org/10.1007/s11934-021-01066-6

Widyasmara HB, Birowo P, Rasyid N. Urinary stone composition analysis in Indonesian population: a single major centre analysis. Indo J Urol. 2018;25(2):104-9. https://doi.org/10.32421/juri.v25i2.406

Li Y, Bayne D, Wiener S, Ahn J, Stoller M, Chi T. Stone formation in patients less than 20 years of age is associated with higher rates of stone recurrence: Results from the Registry for Stones of the Kidney and Ureter (ReSKU). J Pediatr Urol. 2020;16(3):373.e1−6. https://doi.org/10.1016/j.jpurol.2020.03.014

Malieckal DA, Goldfarb DS. Occupational kidney stones. Curr Opin Nephrol Hypertens. 2020;29(2):232-6. https://doi.org/10.1097/MNH.0000000000000581

Koyuncu HH, Yencilek F, Eryildirim B, Sarica K. Family history in stone disease: how important is it for the onset of the disease and the incidence of recurrence? Urol Res. 2010;38(2):105-9. https://doi.org/10.1007/s00240-009-0249-6

Kang HW, Seo SP, Kwon WA, Woo SH, Kim WT, Kim YJ, et al. Distinct metabolic characteristics and risk of stone recurrence in patients with multiple stones at the first-time presentation. Urology. 2014;84(2):274-8. https://doi.org/10.1016/j.urology.2014.02.029

Laksmi PW, Morin C, Gandy J, Moreno LA, Kavouras SA, Martinez H, et al. Fluid intake of children, adolescents and adults in Indonesia: results of the 2016 Liq.In7 national cross-sectional survey. Eur J Nutr. 2018;57(Suppl 3):89-100. https://doi.org/10.1007/s00394-018-1740-z

Abu-Ghanem Y, Shvero A, Kleinmann N, Winkler HZ, Zilberman DE. 24-h urine metabolic profile: is it necessary in all kidney stone formers? Int Urol Nephrol. 2018;50(7):1243-7. https://doi.org/10.1007/s11255-018-1902-1

Skolarikos A, Jung H, Neisius A, Petřík A, Somani B, Tailly T, et al. EAU guidelines on urolithiasis [Internet]. Arnhem: European Association of Urology; 2023. Available from: https://uroweb.org/guidelines/urolithiasis.

Taylor EN, Curhan GC. Body size and 24-hour urine composition. Am J Kidney Dis. 2006;48(6):905-15. https://doi.org/10.1053/j.ajkd.2006.09.004

Zeng J, Wang S, Zhong L, Huang Z, Zeng Y, Zheng D, et al. A retrospective study of kidney stone recurrence in adults. J Clin Med Res. 2019;11(3):208−12. https://doi.org/10.14740/jocmr3753

Geraghty R, Abdi A, Somani B, Cook P, Roderick P. Does chronic hyperglycaemia increase the risk of kidney stone disease? results from a systematic review and meta-analysis. BMJ Open. 2020;10(1):e032094. https://doi.org/10.1136/bmjopen-2019-032094

Torricelli FC, De S, Gebreselassie S, Li I, Sarkissian C, Monga M. Type-2 diabetes and kidney stones: impact of diabetes medications and glycemic control. Urology. 2014;84(3):544-8. https://doi.org/10.1016/j.urology.2014.02.074

Nerli R, Jali M, Guntaka AK, Patne P, Patil S, Hiremath MB. Type 2 diabetes mellitus and renal stones. Adv Biomed Res. 2015;4:180. https://doi.org/10.4103/2277-9175.164012

Huynh LM, Dianatnejad S, Tofani S, Carrillo Ceja R, Liang K, Tapiero S, et al. Metabolic diagnoses of recurrent stone formers: temporal, geographic and gender differences. Scand J Urol. 2020;54(6):456-62. https://doi.org/10.1080/21681805.2020.1840430

Donin AS, Nightingale CM, Owen CG, Rudnicka AR, McNamara MC, Prynne CJ, et al. Nutritional composition of the diets of South Asian, black African-Caribbean and white European children in the United Kingdom: the child heart and health study in England (CHASE). Br J Nutr. 2010;104(2):276-85. https://doi.org/10.1017/S000711451000070X

Hong YH, Dublin N, Razack AH, Mohd MA, Husain R. Urinary metabolic evaluation of stone formers-a Malaysian perspective. Urology. 2012;80(3):529−34. https://doi.org/10.1016/j.urology.2012.02.053

Riley JM, Kim H, Averch TD, Kim HJ. Effect of magnesium on calcium and oxalate ion binding. J Endourol. 2013;27(12):1487-92. https://doi.org/10.1089/end.2013.0173

Shringi S, Raker CA, Tang J. Dietary magnesium intake and kidney stone: the national health and nutrition examination survey 2011-2018. R I Med J (2013). 2023;106(11):20-5. https://doi.org/10.1681/ASN.20233411S1635c

Eyre KS, Lewis F, Cui H, Grout E, Mihai R, Turney BW, et al. Utility of blood tests in screening for metabolic disorders in kidney stone disease. BJU Int. 2021;127(5):538-43. https://doi.org/10.1111/bju.15250

Sila-On A, Pavaro U, Nuchpramool W. Serum and urinary uric acid levels in healthy subjects and in patients with urolithiasis. J Med Assoc Thai. 1991;74(8):352-7.

Hendy GN, Canaff L. Calcium-sensing receptor gene: regulation of expression. Front Physiol. 2016;7:394. https://doi.org/10.3389/fphys.2016.00394

Ali FT, Abd El-Azeem EM, Hekal HF, El-Gizawy MM, Sayed MS, Mandoh AY, et al. Association of TRPV5, CASR, and CALCR genetic variants with kidney stone disease susceptibility in Egyptians through main effects and gene-gene interactions. Urolithiasis. 2022;50:701-10. https://doi.org/10.1007/s00240-022-01360-z

Chang X, Li J, Guo Y, Wei Z, Mentch FD, Hou C, et al. Genome-wide association study of serum minerals levels in children of different ethnic background. PLoS One. 2015;10(4):e0123499. https://doi.org/10.1371/journal.pone.0123499

Ding Q, Fan B, Shi Y, Fan Z, Ding L, Li F, et al. Calcium-sensing receptor genetic polymorphisms and risk of developing nephrolithiasis in a Chinese population. Urol Int. 2017;99(3):331-7. https://doi.org/10.1159/000451006

Published

2024-11-08

How to Cite

1.
Atmoko W, Savira M, Fajriani R, Wistara SS, Asmarinah, Harahap AR, Witjaksono F, Werdhani RA, Safriadi F, Hamid ARAH, Birowo P, Rasyid N, Taher A. Stone recurrence among Indonesian kidney stone formers: a comprehensive analysis of genetic polymorphism, demographic, and clinical factors. Med J Indones [Internet]. 2024Nov.8 [cited 2024Nov.13];1(1). Available from: http://mji.ui.ac.id/journal/index.php/mji/article/view/7596

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Clinical Research
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