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泽尔韦格脑肝肾综合征：16例患者的临床症状及相关实验室检查结果

Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients.

作者信息

Govaerts L, Monnens L, Tegelaers W, Trijbels F, van Raay-Selten A

出版信息

Eur J Pediatr. 1982 Oct;139(2):125-8. doi: 10.1007/BF00441495.

DOI:10.1007/BF00441495
PMID:7151832
Abstract

The clinical features of 16 patients suffering from cerebro-hepato-renal syndrome are presented. Five of these children lived beyond 2 years. Four of them are still alive. The increase of pipecolic acid in serum and cerebrospinal fluid (CSF), the abnormality of the bile acids and the increased excretion of p-OH-phenyl lactate were a consistent finding. The concentration of pipecolic acid in urine was not always distinctly elevated. A loading test with DL-pipecolic acid was always abnormal.

摘要

本文报告了16例脑肝肾综合征患者的临床特征。其中5名儿童存活超过2年。他们中有4人仍在世。血清和脑脊液中哌可酸增加、胆汁酸异常以及对羟基苯乳酸排泄增加是一致的发现。尿中哌可酸浓度并不总是明显升高。用DL-哌可酸进行的负荷试验总是异常的。

相似文献

1
Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients.泽尔韦格脑肝肾综合征：16例患者的临床症状及相关实验室检查结果
Eur J Pediatr. 1982 Oct;139(2):125-8. doi: 10.1007/BF00441495.
2
Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: a disturbance in the metabolism of pipecolic acid.齐韦格脑肝肾综合征的生化研究：哌啶酸代谢紊乱。
J Inherit Metab Dis. 1980;2(2):39-42. doi: 10.1007/BF01799073.
3
[Zellweger's syndrome (cerebro-hepato-renal syndrome)--its clinical picture, morphology and biochemical diagnosis].
Klin Padiatr. 1985 Nov-Dec;197(6):492-7. doi: 10.1055/s-2008-1034028.
4
[Diagnostic approach to peroxisomal diseases].
Minerva Pediatr. 1991 Mar;43(3):133-7.
5
A sibship with a mild variant of Zellweger syndrome.一个患有轻度型泽尔韦格综合征的家族。
J Inherit Metab Dis. 1987;10(3):253-9. doi: 10.1007/BF01800071.
6
[Peroxisomes--in search of their function in man].[过氧化物酶体——探寻其在人类中的功能]
Tijdschr Kindergeneeskd. 1985 Aug;53(4):129-36.
7
Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats.营养性吡哆醇缺乏大鼠脑组织中的哌可酸浓度。
J Inherit Metab Dis. 2005;28(5):689-93. doi: 10.1007/s10545-005-0071-4.
8
Disturbances in bile acid metabolism of infants with the Zellweger (cerebro-hepato-renal) syndrome.齐韦格（脑肝肾）综合征婴儿的胆汁酸代谢紊乱
Eur J Pediatr. 1980;133(1):31-5. doi: 10.1007/BF00444751.
9
Localization of pipecolic acid metabolism in rat liver peroxisomes: probable explanation for hyperpipecolataemia in Zellweger syndrome.
J Inherit Metab Dis. 1987;10(2):128-34. doi: 10.1007/BF01800037.
10
[Diagnosis of Zellweger's cerebrohepatorenal syndrome].[脑肝肾综合征（泽尔韦格综合征）的诊断]
Tijdschr Kindergeneeskd. 1984 Dec;52(6):231-8.

引用本文的文献

1
Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review.《通过临床发现对 Zellweger 谱系障碍严重程度的特征描述：范围综述、荟萃分析和病历回顾》。
Cells. 2022 Jun 10;11(12):1891. doi: 10.3390/cells11121891.
2
AAV-mediated gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder.腺相关病毒介导的基因增强改善了轻度泽尔韦格谱障碍的PEX1-Gly844Asp小鼠模型的视觉功能。
Mol Ther Methods Clin Dev. 2021 Sep 7;23:225-240. doi: 10.1016/j.omtm.2021.09.002. eCollection 2021 Dec 10.
3
Peroxisome biogenesis disorders.

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Conversion of 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholestanoic acid into cholic acid by rat liver peroxisomes.大鼠肝脏过氧化物酶体将3α,7α,12α-三羟基-5β-胆甾烷酸转化为胆酸。
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Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndrome.脑肝肾（泽韦格）综合征中缩醛磷脂缺乏症。
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Disturbed adrenocortical function in cerebro-hepato-renal syndrome of Zellweger.泽尔韦格脑肝肾综合征中肾上腺皮质功能紊乱
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A milder variant of Zellweger syndrome.一种较温和的脑肝肾综合征变体。
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Pipecolic acid levels in serum and urine from neonates and normal infants: comparison with values reported in Zellweger syndrome.新生儿和正常婴儿血清及尿液中哌可酸水平：与脑肝肾综合征报告值的比较。
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Disturbed very long chain (C24-C26) fatty acid pattern in fibroblasts of patients with Zellweger's syndrome.脑肝肾综合征患者成纤维细胞中极长链（C24 - C26）脂肪酸模式紊乱。
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Disturbances in bile acid metabolism of infants with the Zellweger (cerebro-hepato-renal) syndrome.齐韦格（脑肝肾）综合征婴儿的胆汁酸代谢紊乱
Eur J Pediatr. 1980;133(1):31-5. doi: 10.1007/BF00444751.
5
[Morphology and diagnosis of Zellweger syndrome. A contribution to combined cytochemical-finestructural identification of peroxisomes in autopsy material and frozen liver tissue with case report].[脑肝肾综合征的形态学与诊断。对尸检材料和冰冻肝组织中过氧化物酶体进行细胞化学-超微结构联合鉴定并附病例报告]
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Hyperpipecolic acidemia: clinical and biochemical observations in two male siblings.高哌可酸血症：两名男性同胞的临床与生化观察
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Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: a disturbance in the metabolism of pipecolic acid.齐韦格脑肝肾综合征的生化研究：哌啶酸代谢紊乱。
J Inherit Metab Dis. 1980;2(2):39-42. doi: 10.1007/BF01799073.
8
Screening for organic acidurias and amino acidopathies in newborns and children.新生儿及儿童有机酸血症和氨基酸代谢病的筛查。
J Inherit Metab Dis. 1980;3(2):27-43. doi: 10.1007/BF02312520.
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Hyperpipecolatemia: A new metabolic disorder associated with neuropathy and hepatomegaly: A case study.高哌可酸血症：一种与神经病变和肝肿大相关的新型代谢紊乱：病例研究
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Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome.脑肝肾综合征中的过氧化物酶体和线粒体缺陷
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