部分次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症，尿次黄嘌呤排泄未升高。

Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion.

作者信息

van Dael C M L, Pierik L J W M, Reijngoud D J, Niezen-Koning K E, van Diggelen O P, van Spronsen F J

机构信息

Section of Pediatric Nephrology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands.

出版信息

Mol Genet Metab. 2007 Feb;90(2):221-3. doi: 10.1016/j.ymgme.2006.10.011. Epub 2006 Nov 28.

DOI:10.1016/j.ymgme.2006.10.011

PMID:17129743

Abstract

Partial hypoxanthine-guanine phosphoribosyl transferase (HGPRT) deficiency, also known as the Kelley-Seegmiller syndrome, can give rise to a wide range of neurological symptoms, and renal insufficiency. Biochemically, it is characterized by high uric acid concentrations in blood, high uric acid and hypoxanthine excretion in urine, and decreased activity of hypoxanthine-guanine phosphoribosyl transferase activity (HGPRT). However, normal uric acid concentrations in blood and uric acid excretions in urine have been reported. Here, a boy is presented with normal development and suffering from recurrent attacks of acute renal failure with slightly to clearly increased urinary uric acid excretion. Between these attacks, episodes of elevated urinary excretion of uric acid were observed with normal blood concentrations of uric acid and normal urinary excretion of hypoxanthine. HGPRT activity in erythrocytes, leukocytes, and fibroblasts was found to be strongly decreased. This case shows that not only normal blood uric acid but also normal urinary hypoxanthine concentrations do not exclude the diagnosis of partial HGPRT deficiency.

摘要

部分次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶（HGPRT）缺乏症，也称为凯利 - 西格米勒综合征，可引发多种神经症状和肾功能不全。从生化角度来看，其特征为血液中尿酸浓度升高、尿液中尿酸和次黄嘌呤排泄增加以及次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶（HGPRT）活性降低。然而，也有报告称血液中尿酸浓度和尿液中尿酸排泄正常。在此，报告一名发育正常但患有复发性急性肾衰竭且尿酸排泄轻度至明显增加的男孩。在这些发作期间，观察到尿酸排泄增加，而血液尿酸浓度正常且次黄嘌呤尿液排泄正常。发现红细胞、白细胞和成纤维细胞中的HGPRT活性显著降低。该病例表明，不仅血液尿酸正常，而且尿液次黄嘌呤浓度正常也不能排除部分HGPRT缺乏症的诊断。