Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 A new mutation in two siblings with cystinosis presenting with Bartter syndrome.

Literature DB >> 15583946

A new mutation in two siblings with cystinosis presenting with Bartter syndrome.

Marco Pennesi¹, Federico Marchetti, Sergio Crovella, Francesca Boaretto, Laura Travan, Marzia Lazzerini, Elena Neri, Alessandro Ventura.

Abstract

Nephropathic cystinosis is a severe autosomal recessive inherited metabolic disease characterized by accumulation of free cystine in lysosomes. Cystinosis can lead to renal failure and multiorgan impairment. Only five cases of cystinosis with associated Bartter syndrome are reported in the literature, and no genetic evaluation has been reported. We describe two siblings with nephropathic cystinosis presenting with features of Bartter syndrome and their genetic pattern.

Entities: Chemical Disease

Mesh：

Year: 2004 PMID： 15583946 DOI： 10.1007/s00467-004-1702-y

Source DB: PubMed Journal: Pediatr Nephrol ISSN： 0931-041X Impact factor: 3.714

13 in total

Review 1. Molecular developments in renal tubulopathies.

Authors: W G Van'T Hoff
Journal: Arch Dis Child Date: 2000-09 Impact factor: 3.791

2. Nephropathic cystinosis.

Authors: W A Gahl
Journal: Pediatr Rev Date: 1997-09

3. [Nephropathy caused by cystinosis with secondary Bartter's syndrome. Personal experience in a case treated with prolonged diet therapy and acetylsalicylic acid therapy].

Authors: A Berio
Journal: Minerva Pediatr Date: 1978-11-30 Impact factor: 1.312

4. [Infantile cystinosis].

Authors: M Broyer
Journal: Rev Prat Date: 1997-09-15

5. Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.

Authors: L Forestier; G Jean; M Attard; S Cherqui; C Lewis; W van't Hoff; M Broyer; M Town; C Antignac
Journal: Am J Hum Genet Date: 1999-08 Impact factor: 11.025

6. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.

Authors: M Town; G Jean; S Cherqui; M Attard; L Forestier; S A Whitmore; D F Callen; O Gribouval; M Broyer; G P Bates; W van't Hoff; C Antignac
Journal: Nat Genet Date: 1998-04 Impact factor: 38.330

7. Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS).

Authors: Y Anikster; C Lucero; J W Touchman; M Huizing; G McDowell; V Shotelersuk; E D Green; W A Gahl
Journal: Mol Genet Metab Date: 1999-02 Impact factor: 4.797

8. The various renal manifestations of the nephropathic form of cystinosis.

Authors: J Lemire; B S Kaplan
Journal: Am J Nephrol Date: 1984 Impact factor: 3.754

9. Cystinosis presenting with features suggesting Bartter syndrome. Case report and literature review.

Authors: M P Whyte; S Shaheb; H W Schnaper
Journal: Clin Pediatr (Phila) Date: 1985-08 Impact factor: 1.168

10. Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. The Cystinosis Collaborative Research Group.

Authors:
Journal: Nat Genet Date: 1995-06 Impact factor: 38.330

6 in total

A new mutation in two siblings with cystinosis presenting with Bartter syndrome.

Review 1. Molecular developments in renal tubulopathies.

2. Nephropathic cystinosis.

3. [Nephropathy caused by cystinosis with secondary Bartter's syndrome. Personal experience in a case treated with prolonged diet therapy and acetylsalicylic acid therapy].

4. [Infantile cystinosis].

5. Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.

6. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.

7. Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS).

8. The various renal manifestations of the nephropathic form of cystinosis.

9. Cystinosis presenting with features suggesting Bartter syndrome. Case report and literature review.

10. Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. The Cystinosis Collaborative Research Group.

1. A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency.

2. Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.

3. Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria.

4. A patient with cystinosis presenting like bartter syndrome and review of literature.

Review 5. Cystinosis: practical tools for diagnosis and treatment.

6. Cystinosis presenting with findings of Bartter syndrome.