Cochat P, Deloraine A, Rotily M, Olive F, Liponski I, Deries N (1995) Epidemiology of primary hyperoxaluria type 1. Nephrol Dial Transplant 10(Suppl 8):3–7. https://doi.org/10.1093/ndt/10.supp8.3

Article  PubMed  Google Scholar 

van Woerden CS, Groothoff JW, Wanders RJ, Davin JC, Wijburg FA (2003) Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome. Nephrol Dial Transplant 18:273–279. https://doi.org/10.1093/ndt/18.2.273

Article  PubMed  Google Scholar 

van der Hoeven SM, van Woerden CS, Groothoff JW (2012) Primary hyperoxaluria type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort. Nephrol Dial Transplant 27:3855–3862. https://doi.org/10.1093/ndt/gfs320

Article  CAS  PubMed  Google Scholar 

Kopp N, Leumann E (1995) Changing pattern of primary hyperoxaluria in Switzerland. Nephrol Dial Transplant 10:2224–2227. https://doi.org/10.1093/ndt/10.12.2224

Article  CAS  PubMed  Google Scholar 

Lieske JC, Monico CG, Holmes WS, Bergstralh EJ, Slezak JM, Rohlinger AL, Olson JB, Milliner DS (2005) International registry for primary hyperoxaluria. Am J Nephrol 25:290–296. https://doi.org/10.1159/000086360

Article  PubMed  Google Scholar 

Harambat J, van Stralen KJ, Espinosa L, Groothoff JW, Hulton SA, Cerkauskiene R, Schaefer F, Verrina E, Jager KJ, Cochat P (2012) Characteristics and outcomes of children with primary oxalosis requiring renal replacement therapy. Clin J Am Soc Nephrol 7:458–465. https://doi.org/10.2215/cjn.07430711

Article  PubMed  PubMed Central  Google Scholar 

Mandrile G, van Woerden CS, Berchialla P, Beck BB, Acquaviva Bourdain C, Hulton SA, Rumsby G (2014) Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. Kidney Int 86:1197–1204. https://doi.org/10.1038/ki.2014.222

Article  CAS  PubMed  Google Scholar 

Jellouli M, Ferjani M, Abidi K, Zarrouk C, Naija O, Abdelmoula J, Gargah T (2016) Primary hyperoxaluria in infants. Saudi J Kidney Dis Transpl 27:526–532. https://doi.org/10.4103/1319-2442.182389

Article  PubMed  Google Scholar 

Cochat P, Koch Nogueira PC, Mahmoud MA, Jamieson NV, Scheinman JI, Rolland MO (1999) Primary hyperoxaluria in infants: medical, ethical, and economic issues. J Pediatr 135:746–750. https://doi.org/10.1016/s0022-3476(99)70095-8

Article  CAS  PubMed  Google Scholar 

Chanchlani R, Sinha A, Gulati A, Agarwal V, Bagga A (2012) Common mutation underlying primary hyperoxaluria type1 in three Indian children. Indian J Nephrol 22:459–461. https://doi.org/10.4103/0971-4065.106044

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sethi SK, Waterham HR, Sharma S, Sharma A, Hari P, Bagga A (2009) Primary hyperoxaluria type 1 with a novel mutation. Indian J Pediatr 76:215–217. https://doi.org/10.1007/s12098-008-0187-2

Article  PubMed  Google Scholar 

Pinapala A, Garg M, Kamath N, Iyengar A (2017) Clinical and genetic profile of indian children with primary hyperoxaluria. Indian J Nephrol 27:222–224. https://doi.org/10.4103/0971-4065.202831

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lu X, Chen W, Li L, Zhu X, Huang C, Liu S, Yang Y, Zhao Y (2019) Two novel agxt mutations cause the infantile form of primary hyperoxaluria type i in a chinese family: research on missed mutation. Front Pharmacol 10:85. https://doi.org/10.3389/fphar.2019.00085

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhao F, Li J, Tang L, Li C, Wang W, Ning C (2021) Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations. Urolithiasis 49:17–25. https://doi.org/10.1007/s00240-020-01201-x

Article  CAS  PubMed  Google Scholar 

Hoppe B (2012) An update on primary hyperoxaluria. Nat Rev Nephrol 8:467–475. https://doi.org/10.1038/nrneph.2012.113

Article  CAS  PubMed  Google Scholar 

Hopp K, Cogal AG, Bergstralh EJ, Seide BM, Olson JB, Meek AM, Lieske JC, Milliner DS, Harris PC (2015) Phenotype-genotype correlations and estimated carrier frequencies of primary hyperoxaluria. J Am Soc Nephrol 26:2559–2570. https://doi.org/10.1681/asn.2014070698

Article  CAS  PubMed  PubMed Central  Google Scholar 

Coulter-Mackie MB, Applegarth D, Toone JR, Henderson H (2004) The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1. Mol Genet Metab 82:64–68. https://doi.org/10.1016/j.ymgme.2004.02.001

Article  CAS  PubMed  Google Scholar 

Yuen YP, Lai CK, Tong GM, Wong PN, Wong FK, Mak SK, Lo KY, Wong AK, Tong SF, Chan YW, Lam CW (2004) Novel mutations of the AGXT gene causing primary hyperoxaluria type 1. J Nephrol 17:436–440

CAS  PubMed  Google Scholar 

Li GM, Xu H, Shen Q, Gong YN, Fang XY, Sun L, Liu HM, An Y (2014) Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1. BMC Nephrol 15:92. https://doi.org/10.1186/1471-2369-15-92

Article  PubMed  PubMed Central  Google Scholar 

Chen GY, Wei SD, Zou ZW, Tang GF, Sun JJ, Zhou ST (2015) Left lateral sectionectomy of the native liver and combined living-related liver-kidney transplantation for primary hyperoxaluria type 1. Medicine (Baltimore) 94:e1267. https://doi.org/10.1097/md.0000000000001267

Article  PubMed  Google Scholar 

Ren Q, Ju W, Wang D, Guo Z, Chen M, He X (2017) Multidisciplinary cooperation in a simultaneous combined liver and kidney transplantation patient of primary hyperoxaluria 1. JNMA J Nepal Med Assoc 56:175–178

Article  CAS  PubMed  Google Scholar 

Du DF, Li QQ, Chen C, Shi SM, Zhao YY, Jiang JP, Wang DW, Guo H, Zhang WJ, Chen ZS (2018) Updated genetic testing of primary hyperoxaluria type 1 in a chinese population: results from a single center study and a systematic review. Curr Med Sci 38:749–757. https://doi.org/10.1007/s11596-018-1941-y

Article  CAS  PubMed  Google Scholar 

Li X, Gu J, Yang Y, Li J, Li Y (2018) A putative mutation hotspot of the agxt gene associated with primary hyperoxaluria type 1 in the chinese population. Tohoku J Exp Med 246:233–241. https://doi.org/10.1620/tjem.246.233

Article  CAS  PubMed  Google Scholar 

He L, Xu G, Fang X, Lin H, Xu M, Yu Y, Geng H (2019) Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones. World J Urol 37:1713–1721. https://doi.org/10.1007/s00345-018-2563-5

Article  CAS  PubMed  Google Scholar 

Lin JA, Liao X, Wu W, Xiao L, Liu L, Qiu J (2021) Clinical analysis of 13 children with primary hyperoxaluria type 1. Urolithiasis 49:425–431. https://doi.org/10.1007/s00240-021-01249-3

Article  CAS  PubMed  PubMed Central  Google Scholar 

Xu CB, Zhou XD, Xu HE, Zhao YL, Zhao XH, Liu DH, Tian YA, Hu XX, Guan JY, Guo JC, Tang WX, Xue X (2021) A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome. BMC Nephrol 22:83. https://doi.org/10.1186/s12882-021-02276-3

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gao YX, Wang XH, Lang YH, Zhou ZL, Liu J, Wang Y, Shao LP (2014) Analysis of AGXT gene mutation in a primary hyperoxaluria type 1 family Chin. J Nephrol 30:413–418. https://doi.org/10.3760/cma.j.issn.1001-7097.2014.06.003

Article  CAS  Google Scholar 

Ma YH, Ren H, Xie JY, Liu SZ, Jia XY, Chen N (2014) A novel mutation of human liver alanine: glyoxylate aminotransferase causes primary hyperoxaluria type 1 in PH1 family. Chinese Journal of Practical Internal Medicine 34:281–284

Google Scholar 

Cui YJ, Song CL, Cheng YB (2017) Oliguria and acute renal dysfunction in a six-month-old infant Chinese Journal of. Contemp Pediatr 19:203–207. https://doi.org/10.7499/j.issn.1008-8830.2017.02.015

Article  Google Scholar 

Gao YX, Zhang FF, Shao LP (2017) A case of primary hyperoxaluria type 1. Chin J Pediatr 55:224–225

Google Scholar 

Liang SS, Li LJ, Xu F, Liang DD, Chen JS, Wen JQ, Chen DR, Li R, Liu ZH, Zeng CH (2018) Clinical pathological characteristics and prognosis of oxalate nephropathy in the renal allograft: a report of four cases Chinese. Journal of Practical Internal Medicine 38:770–773. https://doi.org/10.19538/j.nk2018080119

Article  Google Scholar 

Shao LN, Ye BX, Chen MS, Jiang XX, Li YW, He Q (2018) A case of adult primary type 1 hyperoxaluria. Chin J Nephrol 34:136–138. https://doi.org/10.3760/cma.j.issn.1001-7097.2018.02.009

Article  Google Scholar 

Zhang CN, Huang ZM, Li L, Mao HJ, Xing YC (2018) A case of primary hyperoxaluria. Chin J Nephrol 34:627–628

Google Scholar 

Deng HY, Zhang YQ, Ding J, Wang F (2019) Two cases with infancy-onset hereditary nephrolithiasis developed to end stage renal disease in youth. J Nephrol Dialy Transplant 28:521–525. https://doi.org/10.3969/j.issn.1006-298X.2019.06.004

Article  Google Scholar 

Xiong Y, Lu ZS, Xia ZP, Zhou DW, Ye QF, Peng GZ (2019) Renal allograft dysfunction caused by primary hyperoxaluria type 1: one case report. Chin J Transplant 13:58–59. https://doi.org/10.3877/cma.j.issn.1674-3903.2019.01.013

Article  Google Scholar