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Literature DB >> 15102646

Early proximal tubular dysfunction in Lowe's syndrome.

G F Laube¹, I M Russell-Eggitt, W G van't Hoff.

Abstract

The early diagnosis of Lowe's syndrome can be difficult. Urinary excretion of retinol binding protein (RBP) and the lysosomal enzyme N-acetyl-glucosaminidase (NAG) were significantly increased in boys with Lowe's syndrome. Measurement of these urine parameters is recommended in suspected cases.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2004 PMID： 15102646 PMCID： PMC1719890 DOI： 10.1136/adc.2003.031187

Source DB: PubMed Journal: Arch Dis Child ISSN： 0003-9888 Impact factor: 3.791

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Cited

8 in total

Review 1. The blind kidney: disorders affecting kidneys and eyes.

Authors: Isabelle Russell-Eggitt; Detlef Bockenhauer
Journal: Pediatr Nephrol Date: 2013-01-24 Impact factor: 3.714

2. Management of cataract surgery in Lowe syndrome.

Authors: Katharina Eibenberger; Sandra Rezar-Dreindl; Franz Pusch; Ursula Schmidt-Erfurth; Eva Stifter
Journal: Int J Ophthalmol Date: 2022-07-18 Impact factor: 1.645

3. Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.

Authors: Florian Recker; Marcin Zaniew; Detlef Böckenhauer; Nunzia Miglietti; Arend Bökenkamp; Anna Moczulska; Anna Rogowska-Kalisz; Guido Laube; Valerie Said-Conti; Belde Kasap-Demir; Anna Niemirska; Mieczysław Litwin; Grzegorz Siteń; Krystyna H Chrzanowska; Małgorzata Krajewska-Walasek; Sidharth K Sethi; Velibor Tasic; Franca Anglani; Maria Addis; Anna Wasilewska; Maria Szczepańska; Krzysztof Pawlaczyk; Przemysław Sikora; Michael Ludwig
Journal: Pediatr Nephrol Date: 2014-12-06 Impact factor: 3.714

Review 4. Inherited cerebrorenal syndromes.

Authors: Scott J Schurman; Steven J Scheinman
Journal: Nat Rev Nephrol Date: 2009-09 Impact factor: 28.314

Early proximal tubular dysfunction in Lowe's syndrome.

Review 1. The blind kidney: disorders affecting kidneys and eyes.

2. Management of cataract surgery in Lowe syndrome.

3. Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.

Review 4. Inherited cerebrorenal syndromes.

5. Renal manifestations of Dent disease and Lowe syndrome.

6. Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction.

7. Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins.

Review 8. The oculocerebrorenal syndrome of Lowe: an update.