Loi M (2006) Lowe syndrome. Orphanet J Rare Dis 1:16. https://doi.org/10.1186/1750-1172-1-16
Article PubMed PubMed Central Google Scholar
Lowe CU, Terrey M, MacLachlan EA (1952) Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity. AMA Am J Dis Child 83:164–184. https://doi.org/10.1001/archpedi.1952.02040060030004
Article CAS PubMed Google Scholar
Recker F, Zaniew M, Böckenhauer D, Miglietti N, Bökenkamp A, Moczulska A, Rogowska-Kalisz A, Laube G, Said-Conti V, Kasap-Demir B, Niemirska A, Litwin M, Siteń G, Chrzanowska KH, Krajewska-Walasek M, Sethi SK, Tasic V, Anglani F, Addis M, Wasilewska A, Szczepańska M, Pawlaczyk K, Sikora P, Ludwig M (2015) Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome. Pediatr Nephrol 30:931–943. https://doi.org/10.1007/s00467-014-3013-2
Charnas L, Bernar J, Pezeshkpour GH, Dalakas M, Harper GS, Gahl WA (1988) MRI findings and peripheral neuropathy in Lowe’s syndrome. Neuropediatrics 19:7–9. https://doi.org/10.1055/s-2008-1052393
Article CAS PubMed Google Scholar
Demmer LA, Wippold FJ 2nd, Dowton SB (1992) Periventricular white matter cystic lesions in Lowe (oculocerebrorenal) syndrome. A new MR finding. Pediatr Radiol 22:76–77. https://doi.org/10.1007/BF02011619
Article CAS PubMed Google Scholar
Bockenhauer D, Bokenkamp A, van’t Hoff W, Levtchenko E, Kist-van Holthe JE, Tasic V, Ludwig M (2008) Renal phenotype in Lowe syndrome: a selective proximal tubular dysfunction. Clin J Am Soc Nephrol 3:1430–1436. https://doi.org/10.2215/CJN.00520108
Article PubMed PubMed Central Google Scholar
Cau M, Addis M, Congiu R, Meloni C, Cao A, Santaniello S, Loi M, Emma F, Zuffardi O, Ciccone R, Sole G, Melis MA (2006) A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. J Hum Genet 51:1030–1036. https://doi.org/10.1007/s10038-006-0049-6
Article CAS PubMed Google Scholar
Hodgson SV, Heckmatt JZ, Hughes E, Crolla JA, Dubowitz V, Bobrow M (1986) A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome. Am J Med Genet 23:837–847. https://doi.org/10.1002/ajmg.1320230311
Article CAS PubMed Google Scholar
Lin T, Lewis RA, Nussbaum RL (1999) Molecular confirmation of carriers for Lowe syndrome. Ophthalmology 106:119–122. https://doi.org/10.1016/S0161-6420(99)90012-X
Article CAS PubMed Google Scholar
Pirruccello M, De Camilli P (2012) Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL. Trends Biochem Sci 37:134–143. https://doi.org/10.1016/j.tibs.2012.01.002
Article CAS PubMed PubMed Central Google Scholar
Recker F, Reutter H, Ludwig M (2013) Lowe syndrome/Dent-2 disease: a comprehensive review of known and novel aspects. J Pediatr Genet 2:53–68. https://doi.org/10.3233/PGE-13049
Article CAS PubMed PubMed Central Google Scholar
Mehta ZB, Pietka G, Lowe M (2014) The cellular and physiological functions of the Lowe syndrome protein OCRL1. Traffic 15:471–487. https://doi.org/10.1111/tra.12160
Article CAS PubMed PubMed Central Google Scholar
Vicinanza M, Di Campli A, Polishchuk E, Santoro M, Di Tullio G, Godi A, Levtchenko E, De Leo MG, Polishchuk R, Sandoval L, Marzolo MP, De Matteis MA (2011) OCRL controls trafficking through early endosomes via PtdIns4,5P2-dependent regulation of endosomal actin. EMBO J 30:4970–4985. https://doi.org/10.1038/emboj.2011.354
Article CAS PubMed PubMed Central Google Scholar
Festa BP, Berquez M, Gassama A, Amrein I, Ismail HM, Samardzija M, Staiano L, Luciani A, Grimm C, Nussbaum RL, De Matteis MA, Dorchies OM, Scapozza L, Wolfer DP, Devuyst O (2019) OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease. Hum Mol Genet 28:1931–1946. https://doi.org/10.1093/hmg/ddy449
Article CAS PubMed Google Scholar
Karabiyik C, Son SM, Rubinsztein DC (2021) Lysosome positioning and mTOR activity in Lowe syndrome. EMBO Rep 22:53232. https://doi.org/10.15252/embr.202153232
Hichri H, Rendu J, Monnier N, Coutton C, Dorseuil O, Poussou RV, Baujat G, Blanchard A, Nobili F, Ranchin B, Remesy M, Salomon R, Satre V, Lunardi J (2011) From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. Hum Mutat 32:379–388. https://doi.org/10.1002/humu.21391
Article CAS PubMed Google Scholar
Pasternack SM, Böckenhauer D, Refke M, Tasic V, Draaken M, Conrad C, Born M, Betz RC, Reutter H, Ludwig M (2013) A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the “O” in OCRL. Klin Padiatr 225:29–33. https://doi.org/10.1055/s-0032-1321900
Article CAS PubMed Google Scholar
Bökenkamp A, Ludwig M (2016) The oculocerebrorenal syndrome of Lowe: an update. Pediatr Nephrol 31:2201–2212. https://doi.org/10.1007/s00467-016-3343-3
Article PubMed PubMed Central Google Scholar
Zhang Y, Deng L, Chen X, Hu Y, Chen Y, Chen K, Zhou J (2021) Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review. BMC Med Genomics 14:219. https://doi.org/10.1186/s12920-021-01069-9
Article CAS PubMed PubMed Central Google Scholar
Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ (2005) Dent disease with mutations in OCRL1. Am J Hum Genet 76:260–267. https://doi.org/10.1086/427887
Article CAS PubMed Google Scholar
Utsch B, Bökenkamp A, Benz MR, Besbas N, Dötsch J, Franke I, Fründ S, Gok F, Hoppe B, Karle S, Kuwertz-Bröking E, Laube G, Neb M, Nuutinen M, Ozaltin F, Rascher W, Ring T, Tasic V, van Wijk JA, Ludwig M (2006) Novel OCRL1 mutations in patients with the phenotype of Dent disease. Am J Kidney Dis 48:942.e1-e14. https://doi.org/10.1053/j.ajkd.2006.08.018
Article CAS PubMed Google Scholar
Bökenkamp A, Böckenhauer D, Cheong HI, Hoppe B, Tasic V, Unwin R, Ludwig M (2009) Dent-2 disease: a mild variant of Lowe syndrome. J Pediatr 155:94–99. https://doi.org/10.1016/j.jpeds.2009.01.049
Böckenhauer D, Bökenkamp A, Nuutinen M, Unwin R, Van’t Hoff W, Sirimanna T, Vrljicak K, Ludwig M (2012) Novel OCRL mutations in patients with Dent-2 disease. J Pediatr Genet 1:15–23. https://doi.org/10.3233/PGE-2012-005
Article PubMed PubMed Central Google Scholar
Li H, Ji CY, Zong XN, Zhang YQ (2009) Height and weight standardized growth charts for Chinese children and adolescents aged 0 to 18 years. Zhonghua er ke za zhi (Chin J Pediatr) 47:487–492
Li H, Ji CY, Zong XN, Zhang YQ (2009) Body mass index growth curves for Chinese children and adolescents aged 0 to 18 years. Zhonghua er ke za zhi (Chin J Pediatr) 47:493–498
(2018) A national survey on physical growth and development of children under seven years of age in nine cities of China in 2015. Zhonghua er ke za zhi (Chin J Pediatr) 56:192–199. https://doi.org/10.3760/cma.j.issn.0578-1310.2018.03.008
Matos V, van Melle G, Boulat O, Markert M, Bachmann C, Guignard JP (1997) Urinary phosphate/creatinine, calcium/creatinine, and magnesium/creatinine ratios in a healthy pediatric population. J Pediatr 131:252–257. https://doi.org/10.1016/s0022-3476(97)70162-8
Article CAS PubMed Google Scholar
Kruse K, Kracht U, Göpfert G (1982) Renal threshold phosphate concentration (TmPO4/GFR). Arch Dis Child 57:217–223. https://doi.org/10.1136/adc.57.3.217
留言 (0)