Zhao Yaowang,Li Chuangye.Recent advances in the treatment of hereditary nephrolithiasis in children[J].Journal of Clinical Pediatric Surgery,2020,19(08):666-671.[doi:10.3969/j.issn.1671-6353.2020.08.002]
儿童遗传性肾结石的治疗进展
- Title:
- Recent advances in the treatment of hereditary nephrolithiasis in children
- Keywords:
- Kidney Calculi; Heredity; Therapy; Child
- 分类号:
- R692.4;R726.9
- 摘要:
- 儿童遗传性肾结石是由基因突变引起的罕见病，具有发病早、进展快等特点，部分病例早期即合并急性肾功能不全或衰竭。目前此类疾病治疗方法有限，主要为对症治疗，如增加液体摄入量或促进结石溶解等，特异性治疗需根据病因及发病机制而定。本文就儿童遗传性肾结石的治疗现状及进展进行总结。
- Abstract:
- As a rare disease caused by gene mutations, hereditary nephrolithiasis has an early onset and a rapid progression in children. Some patients are complicated with acute renal insufficiency or failure during an early stage. Currently the specific therapies are rather limited. Symptomatic measures, such as boosting the fluid intake or promoting the dissolution of stones, are major therapeutic strategies. Specific options depend upon the etiology and pathogenesis. This article summarizes the current status and recent advances in the treatment of hereditary nephrolithiasis in children.
参考文献/References:
1 Spivacow FR,Negri AL,Del Valle EE,et al.Clinical and metabolic risk factor evaluation in young adults with kidney stones[J].Int Urol Nephrol,2010,42(2):471-475.DOI:10.1007/s11255-009-9623-0.
2 Hoppe B,Martin-Higueras C.Inherited conditions resulting in nephrolithiasis[J].Curr Opin Pediatri,2020,32(2):273-283.DOI:10.1097/MOP.0000000000000848.
3 Arrabal-Polo MA,Arias-Santiago S,de Haro-Mu?oz T,et al.Effects of aminobisphosphonates and thiazides in patients with osteopenia/osteoporosis,hypercalciuria,and recurring renal calcium lithiasis[J].Urology,2013,81(4):731-737.DOI:10.1016/j.urology.2012.12.013.
4 Hannan FM,Babinsky VN,Thakker RV.Disorders of the calcium-sensing receptor and partner proteins:insights into the molecular basis of calcium homeostasis[J].J Mol Endocrinol,2016,57(3):R127-R142.DOI:10.1530/JME-16-0124.
5 Gabriel SS,Belge H,Gassama A,et al.Bone marrow transplantation improves proximal tubule dysfunction in a mouse model of Dent disease[J].Kidney Int,2017,91(4):842-855.DOI:10.1016/j.kint.2016.11.016.
6 Strauss SB,Waltuch T,Bivin W,et al.Primary hyperoxaluria:spectrum of clinical and imaging findings[J].Pediatr Radiol,2017,47(1):96-103.DOI:10.1007/s00247-016-3723-7.
7 Weigert A,Hoppe B.Nephrolithiasis and nephrocalcinosis in childhood-risk factor-related current and future treatment options[J].Front Pediatr,2018,6:98.DOI:10.3389/fped.2018.00098.
8 Bergstralh EJ,Monico CG,Lieske JC,et al.Transplantation outcomes in primary hyperoxaluria[J].Am J Transplant,2010,10(11):2493-2501.DOI:10.1111/j.1600-6143.2010.03271.x.
9 Harambat J,Van Stralen KJ,Espinosa L,et al.Characteristics and outcomes of children with primary oxalosis requiring renal replacement therapy[J].Clin J Am Soc Nephrol,2012,7(3):458-465.DOI:10.2215/CJN.07430711.
10 Hoppe B.An update on primary hyperoxaluria[J].Nat Rev Nephrol,2012,8(8):467-475.DOI:10.1038/nrneph.2012.113.
11 Azcarate-Peril MA,Bruno-Bárcena JM,Hassan HM,et al.Transcriptional and functional analysis of oxalyl-coenzyme A (CoA) decarboxylase and formyl-CoA transferase genes from Lactobacillus acidophilus[J].Appl Environ Microbiol,2006,72(3):1891-1899.DOI:10.1128/AEM.72.3.1891-1899.2006.
12 Ivanovski O,Drüeke TB.A new era in the treatment of calcium oxalate stones?[J] Kidney Int,2013,83:998-1000.DOI:10.1038/ki.2013.41.
13 Dirk L,Kymora BS.The Role of Bacteria in Urology[M]//Knight J,Holmes RP.Role of oxalobacter formigenes colonization in calcium oxalate kidney stone disease.Springer,Cham,2019:95-102.
14 Siener R,Bangen U,Sidhu H,et al.The role of oxalobacter formigenes colonization in calcium oxalate stone disease[J].Kidney Int,2013,83(6):1144-1149.DOI:10.1038/ki.2013.104.
15 Arvans D,Jung YC,Antonopoulos D,et al.Oxalobacter formigenes-derived bioactive factors stimulate oxalate transport by intestinal epithelial cells[J].J Am Soc Nephrol,2017,28(3):876-887.DOI:10.1681/asn.2016020132.
16 Hatch M,Freel RW.A human strain of oxalobacter (HC-1) promotes enteric oxalate secretion in the small intestine of mice and reduces urinary oxalate excretion[J].Urolithiasis,2013,41(5):379-384.DOI:10.1007/s00240-013-0601-8.
17 Hoppe B,Beck B,Gatter N,et al.Oxalobacter formigenes:a potential tool for the treatment of primary hyperoxaluria type 1[J].Kidney Int,2006,70(7):1305-1311.DOI:10.1038/sj.ki.5001707.
18 Hoppe B,Groothoff JW,Hulton SA,et al.Efficacy and safety of oxalobacter formigenes to reduce urinary oxalate in primary hyperoxaluria[J].Nephrol Dial Transplant,2011,26(1):3609-3615.DOI:10.1093/ndt/gfr107.
19 Hoppe B,Niaudet P,Salomon R,et al.A randomised Phase I/II trial to evaluate the efficacy and safety of orally administered oxalobacter formigenes to treat primary hyperoxaluria[J].Pediatr Nephrol,2017,32(5):781-790.DOI:10.1007/s00467-016-3553-8.
20 Burns Z,Knight J,Fargue S,et al.Future treatments for hyperoxaluria[J].Curr Opin Urol,2020,30(2):171-176.DOI:10.1097/MOU.0000000000000709.
21 Beck BB,Hoyer-Kuhn H,G?bel H,et al.Hyperoxaluria and systemic oxalosis:an update on current therapy and future directions[J].Expert Opin Investig Drugs,2013,22(1):117-129.DOI:10.1517/13543784.2013.741587.
22 Salido,Eduardo,Luis-Lima,et al.Glycolate oxidase is a safe and efficient target for substrate reduction therapy in a mouse model of primary hyperoxaluria type I[J].Mol Ther,2016,24(4):719-725.DOI:10.1038/mt.2015.224.
23 Kletzmayr A,Ivarsson ME,Leroux JC.Investigational therapies for primary hyperoxaluria[J].Bioconjug Chem,2020,31(7)1696-1707.DOI:10.1021/acs.bioconjchem.0c00268.
24 Sahota A,Tischfield JA,Goldfarb DS,et al.Cystinuria:genetic aspects,mouse models,and a new approach to therapy[J].Urolithiasis,2019,47(1):57-66.DOI:10.1007/s00240-018-1101-7.
25 Rimer JD,An ZH,Zhu NZ,et al.Crystal growth inhibitors for the prevention of L-cystine kidney stones through molecular design[J].Science,2010,330(6002):337-341.DOI:10.1126/science.1191968.
26 Sahota A,Parihar JS,Capaccione KM,et al.Novel cystine ester mimics for the treatment of cystinuria-induced urolithiasis in a knockout mouse model[J].Urology,2014,84(5):1249.e9-1249.e15.DOI:10.1016/j.urology.2014.07.043.
27 Hu LQ,Yang YH,Aloysius H,et al.L-cystine diamides as L-cystine crystallization inhibitors for cystinuria[J].J Med Chem,2016,59(15):7293-7298.DOI:10.1021/acs.jmedchem.6b00647.
28 Poloni LN,Zhu ZN,Garcia-Vaázquez N,et al.Role of molecular recognition in L-cystine crystal growth inhibition[J].Cryst Growth Des,2017,17(5):2767-2781.DOI:10.1021/acs.cgd.7b00236.
29 Yang YH,Albanyan H,Lee S,et al.Design,synthesis,and evaluation of l-cystine diamides as l-cystine crystallization inhibitors for cystinuria[J].Bioorg Med Chem Lett,2018,28(8):1303-1308.DOI:10.1021/acs.jmedchem.6b00647.
30 Ng N,Kaur A,Shenoy M.Recurrent kidney stones in a child with Lesch-Nyhan syndrome:Questions[J].Pediatr Nephrol,2019,34(3):423-424.DOI:10.1007/s00467-018-4035-y.
31 Kubihal S,Goyal A,Singla R,et al.Urolithiasis due to hereditary xanthinuria type II:a long-term follow-up report[J].Indian Pediatr,2020,57(5):468-469.DOI:10.1007/s13312-020-1825-7.
32 Grases F,Costa-Bauza A,Roig J,et al.Xanthine urolithiasis:Inhibitors of xanthine crystallization[J].PLoS One,2018,13(8):e0198881.DOI:10.1371/journal.pone.0198881.
33 Chow K,Dixon J,Gilpin S,et al.Citrate inhibits growth of residual fragments in an in vitro model of calcium oxalate renal stones[J].Kidney Int,2004,65(5):1724-1730.DOI:10.1111/j.1523-1755.2004.00566.x.
34 Hoppe B,Kemper MJ.Diagnostic examination of the child with urolithiasis or nephrocalcinosis[J].Pediatr Nephrol,2010,25(3):403-413.DOI:10.1007/s00467-008-1073-x.
35 Skrzypczyk P,Paczyk-Tomaszewska M.Hypocitraturia:its importance as a factor in the development of urolithiasis[J]. Pediatria i Medycyna Rodzinna,2019,15(1):26-32.DOI:10.15557/PiMR.2019.0005.
36 Karsli O,Izol V,Aridogan IA,et al.Metabolic risk factors and the effect of metaphylaxis in pediatric stone disease with hypocitraturia[J].Urolithiasis,2013,41(1):9-13.DOI:10.1007/s00240-012-0539-2.
37 Abe H,Orita Y,Ando A,et al.Renal tubular acidosis[J].J Pediatr,2014,164(11):691-698.e1.DOI:10.1016/j.jpeds.2013.10.085.
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备注/Memo
收稿日期:2020-07-01。
基金项目:湖南省自然科学基金面上项目（编号：2017JJ2139）
作者简介:赵夭望,Email:yw508@sina.com