Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects
Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects
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Lowe 综合征/Dent-2 疾病：已知和新颖方面的全面回顾
DOI：
10.3233/pge-13049
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发表时间：
2013
影响因子：
0.4
通讯作者：
M. Ludwig
中科院分区：
文献类型：
--
作者：
F. Recker;H. Reutter;M. Ludwig
摘要眼脑肾综合征是一种罕见的X连锁多系统疾病，其特征是先天性白内障，认知和行为障碍和肾近端小管病变，几乎所有的患者。虽然眼部表现和严重的张力减退在出生时就存在，但肾脏受累出现在出生后的最初几个月内。患者表现出进行性生长迟缓，并可能发展为衰弱性关节病。治疗是对症的，寿命很少超过40年。致病性OCRL基因编码肌醇多磷酸5-磷酸酶。OCRL突变不仅在典型的Lowe综合征中发现，而且在轻度受累的患者中也发现，归类为Dent-2疾病。在Dent-2病和Lowe综合征患者中存在表型连续体，这表明在补偿酶功能丧失的能力方面存在个体差异。研究人员已经进行了大量的工作，以了解导致这种疾病的病因。然而，导致临床表现的机制仍然知之甚少，我们离有效的治疗还很远。在这篇综述中，我们包括了公认的发现和最新进展，了解Lowe综合征和Dent-2疾病。
Abstract The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, cognitive and behavioral impairment and a renal proximal tubulopathy in almost all of the patients. Whereas the ocular manifestations and severe hypotonia are present at birth, the renal involvement appears within the first months of life. Patients show progressive growth retardation and may develop a debilitating arthropathy. Treatment is symptomatic and life span rarely exceeds 40 yr. The causative OCRL gene, encodes an inositol polyphosphate 5-phosphatase. OCRL mutations were not only found in classic Lowe syndrome, but also in milder affected patients, classified as having Dent-2 disease. There is a phenotypic continuum within patients with Dent-2 disease and Lowe syndrome, suggesting that there are individual differences in the ability to compensate for loss of enzyme function. Researchers have conducted a large amount of work to understand the etiology responsible for the disease. However, the mechanisms leading to the clinical manifestations are still poorly understood and we are far from an effective therapy. In this review, we have included well-established findings and the most recent progress in understanding Lowe syndrome and Dent-2 disease.
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影响因子：
15.9
作者：
Birn, H;Fyfe, JC;Christensen, EI
通讯作者：
Christensen, EI
DOI：
10.1073/pnas.92.11.4853
发表时间：
1995-05-23
影响因子：
11.1
作者：
ZHANG, XL;JEFFERSON, AB;MAJERUS, PW
通讯作者：
MAJERUS, PW
Lowe综合征患者血浆溶酶体酶水平升高。
DOI：
10.1073/pnas.96.23.13342
发表时间：
1999
影响因子：
11.1
作者：
Ungewickell,AJ;Majerus,PW
通讯作者：
Majerus,PW
肌醇多磷酸 5-磷酸酶 Ocrl 与部分包被网格蛋白的内体结合。
DOI：
10.1073/pnas.0405664101
发表时间：
2004
影响因子：
11.1
作者：
Ungewickell,Alexander;Ward,MichaelE;Ungewickell,Ernst;Majerus,PhilipW
通讯作者：
Majerus,PhilipW
5-磷酸酶 OCRL 通过调节 Rac1-cofilin 信号模块介导 6-磷酸甘露糖受体的逆行转运。
影响因子：
3.5
作者：
vanRahden,VanessaA;Brand,Kristina;Najm,Juliane;Heeren,Joerg;Pfeffer,SuzanneR;Braulke,Thomas;Kutsche,Kerstin
通讯作者：
Kutsche,Kerstin