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高甘氨酸尿症伴肾结石

Hyperglycinuria with nephrolithiasis.

作者信息

Oberiter V, Puretić Z, Fabecić-Sabadi V

出版信息

Eur J Pediatr. 1978 Apr 20;127(4):279-85. doi: 10.1007/BF00493544.

DOI:10.1007/BF00493544
PMID:668712
Abstract

The case of a seven and a half-year-old girl with hyperglycinuria, oxalate nephrolithiasis, and a normal plasma amino acid pattern is presented. Hyperglycinuria amounted to 400 mg of glycine in 24 h urine and the stone was composed of calcium oxalate dihydrate. The metabolic relationship between glycine and oxalate is discussed. It is possible that the association of nephrolithiasis and hyperglycinuria was coincidental, although the case of familial hyperglycinuria with nephrolithiasis reported by De Vries and collaborators and our case suggest the possibility of a relationship between the aforesaid compounds in vivo.

摘要

本文报告了一例7岁半女童,患有高甘氨酸尿症、草酸钙肾结石,血浆氨基酸谱正常。24小时尿中高甘氨酸尿症的甘氨酸含量达400毫克,结石由二水合草酸钙组成。文中讨论了甘氨酸与草酸盐之间的代谢关系。肾结石与高甘氨酸尿症之间的关联可能是巧合,尽管德弗里斯及其合作者报告的家族性高甘氨酸尿症合并肾结石病例以及我们的病例表明,上述化合物在体内可能存在关联。

相似文献

1
Hyperglycinuria with nephrolithiasis.高甘氨酸尿症伴肾结石
Eur J Pediatr. 1978 Apr 20;127(4):279-85. doi: 10.1007/BF00493544.
2
The SLC6A19 gene mutation in a young man with hyperglycinuria and nephrolithiasis: a case report and literature review.年轻男性患者的高甘氨酸尿症和肾结石症与 SLC6A19 基因突变:病例报告及文献复习。
BMC Urol. 2022 Nov 24;22(1):190. doi: 10.1186/s12894-022-01147-9.
3
[Study on a case of hyperglycinuria with oxalate calculi and ketoaciduria].[一例高甘氨酸尿症合并草酸盐结石和酮尿症的病例研究]
Minerva Urol. 1972 Sep-Oct;24(5):212-21.
4
Hyperglycinuria: a family report.高甘氨酸尿症:一份家族报告。
Nagoya J Med Sci. 1979 Dec;42(1-2):7-12.
5
Erythrocyte transmembrane flux and renal clearance of oxalate in idiopathic calcium nephrolithiasis.
Kidney Int. 1995 Nov;48(5):1549-52. doi: 10.1038/ki.1995.445.
6
Familial iminoglycinuria with normal intestinal absorption of glycine and imino acids in association with profound mental retardation, a possible "cerebral phenotype".伴有甘氨酸和亚氨基酸肠道吸收正常的家族性亚氨基甘氨酸尿症,与严重智力迟钝相关,一种可能的“脑表型”。
Helv Paediatr Acta. 1976 Aug;31(2):173-82.
7
Metabolic urinary correlates of calcium oxalate dihydrate in renal stones.肾结石中草酸钙二水合物的代谢性尿液相关因素。
J Urol. 1998 Mar;159(3):664-8.
8
Dietary treatment of urinary risk factors for renal stone formation. A review of CLU Working Group.肾结石形成的尿液危险因素的饮食治疗。CLU工作组综述
Arch Ital Urol Androl. 2015 Jul 7;87(2):105-20. doi: 10.4081/aiua.2015.2.105.
9
Glycinuria, a hereditary disorder associated with nephrolithiasis.
Am J Med. 1957 Sep;23(3):408-15. doi: 10.1016/0002-9343(57)90320-0.
10
Age, Body Mass Index, and Gender Predict 24-Hour Urine Parameters in Recurrent Idiopathic Calcium Oxalate Stone Formers.年龄、体重指数和性别可预测复发性特发性草酸钙结石形成者的24小时尿液参数。
J Endourol. 2017 Dec;31(12):1335-1341. doi: 10.1089/end.2017.0352.

引用本文的文献

1
The SLC6A19 gene mutation in a young man with hyperglycinuria and nephrolithiasis: a case report and literature review.年轻男性患者的高甘氨酸尿症和肾结石症与 SLC6A19 基因突变:病例报告及文献复习。
BMC Urol. 2022 Nov 24;22(1):190. doi: 10.1186/s12894-022-01147-9.
2
Hyperglycinuria: diagnosis in middle age.高甘氨酸尿症:中年发病。
BMJ Case Rep. 2022 Mar 2;15(3):e246252. doi: 10.1136/bcr-2021-246252.

本文引用的文献

1
VITAMIN B6 AND OXALATE METABOLISM.
Vitam Horm. 1964;22:581-9.
2
PRIMARY HYPEROXALURIA.原发性高草酸尿症
Medicine (Baltimore). 1964 May;43:315-45. doi: 10.1097/00005792-196405000-00010.
3
THE RENAL CLEARANCE OF OXALIC ACID IN NORMAL SUBJECTS AND IN PATIENTS WITH PRIMARY HYPEROXALURIA.正常受试者及原发性高草酸尿症患者中草酸的肾脏清除率
Invest Urol. 1963 Jul;1:87-93.
4
Conversion of glycine to oxalate in primary hyperoxaluria.原发性高草酸尿症中甘氨酸向草酸盐的转化。
Lancet. 1959 Nov 14;2(7107):806-9. doi: 10.1016/s0140-6736(59)90751-2.
5
The aetiology of primary hyperoxaluria.原发性高草酸尿症的病因学。
Br Med J. 1958 Jan 25;1(5064):175-81. doi: 10.1136/bmj.1.5064.175.
6
Glycinuria, a hereditary disorder associated with nephrolithiasis.
Am J Med. 1957 Sep;23(3):408-15. doi: 10.1016/0002-9343(57)90320-0.
7
Non-enzymatic transamination with glyoxylic acid and various amino acids.与乙醛酸和各种氨基酸的非酶转氨作用。
J Biol Chem. 1953 Oct;204(2):831-6.
8
Endogenous renal clearance rates of free amino acids in pre-pubertal children. (Employing an accelerated procedure for elution chromatography of basic amino acids on ion exchange resin).
Pediatrics. 1965 Oct;36(4):592-8.
9
The conversion of [1-13C]glycine and [2-13C]glycine to [13C]oxalate in primary hyperoxaluria: evidence for the existence of more than one metabolic pathway from glycine to oxalate in man.原发性高草酸尿症中[1-¹³C]甘氨酸和[2-¹³C]甘氨酸向[¹³C]草酸盐的转化:人体中存在不止一条从甘氨酸到草酸盐代谢途径的证据。
Clin Sci. 1968 Oct;35(2):325-35.
10
[Diagnosis and course of oxalosis. Histological and biochemical studies].[草酸中毒的诊断与病程。组织学与生物化学研究]
Kinderarztl Prax. 1971 Nov;39(11):487-94.