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Literature DB >> 2234434

Kearns-Sayre syndrome presenting as renal tubular acidosis.

L Eviatar¹, S Shanske, B Gauthier, C Abrams, J Maytal, M Slavin, E Valderrama, S DiMauro.

Abstract

Renal tubular acidosis and tetany were the 1st manifestations of Kearns-Sayre syndrome in a 5-year-old child. Subsequently, he developed progressive external ophthalmoplegia, ptosis, retinopathy, heart block, and endocrinopathy. There was a 7.5-kb deletion of mitochondrial DNA documented in muscle, kidney, skin fibroblasts, and leukocytes, providing evidence for a multisystem mitochondrial cytopathy.

Entities: Disease Species

Mesh：

Substances：
DNA, Mitochondrial

Year: 1990 PMID： 2234434 DOI： 10.1212/wnl.40.11.1761

Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910

Keyword Cloud
Cited

17 in total

Review 1. Clinical mitochondrial genetics.

Authors: P F Chinnery; N Howell; R M Andrews; D M Turnbull
Journal: J Med Genet Date: 1999-06 Impact factor: 6.318

Review 2. Multisystem manifestations of mitochondrial disorders.

Authors: Stefano Di Donato
Journal: J Neurol Date: 2009-03-01 Impact factor: 4.849

3. Mitochondrial DNA deletion in a girl with Fanconi's syndrome.

Authors: Kam Ming Au; Shing Chi Lau; Yuen Fun Mak; Wai Ming Lai; Tat Chong Chow; Mo Lung Chen; Man Chun Chiu; Albert Yan Wo Chan
Journal: Pediatr Nephrol Date: 2006-09-12 Impact factor: 3.714

4. Respiratory chain deficiency presenting as congenital nephrotic syndrome.

Authors: Alice Goldenberg; Linh Huynh Ngoc; Marie-Christine Thouret; Valérie Cormier-Daire; Marie-France Gagnadoux; Dominique Chrétien; Catherine Lefrançois; Vanna Geromel; Agnès Rötig; Pierre Rustin; Arnold Munnich; Véronique Paquis; Corinne Antignac; Marie-Claire Gubler; Patrick Niaudet; Pascale de Lonlay; Etienne Bérard
Journal: Pediatr Nephrol Date: 2005-01-29 Impact factor: 3.714

Kearns-Sayre syndrome presenting as renal tubular acidosis.

Review 1. Clinical mitochondrial genetics.

Review 2. Multisystem manifestations of mitochondrial disorders.

3. Mitochondrial DNA deletion in a girl with Fanconi's syndrome.

4. Respiratory chain deficiency presenting as congenital nephrotic syndrome.

5. Renal manifestations of primary mitochondrial disorders.

6. Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions.

7. Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain.

8. A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion.

9. Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome.

Review 10. Renal involvement in mitochondrial cytopathies.