Pearson's syndrome presenting with Fanconi syndrome

Ultrastructural Pathology

Volumn 20, Issue 5, 1996, Pages 473-475

  Gilbert, Rodney D ^a,b   Emms, Malcolm ^a  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

^b UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

Mitochondrial cytopathy; Muscle; Pearson's syndrome; Renal tubules; Ultrastructure

Indexed keywords

MAGNESIUM;

ARTICLE; CASE REPORT; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; MALE; MITOCHONDRION; MUSCLE BIOPSY; PEARSON SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; ULTRASTRUCTURE;

EID: 0029738171     PISSN: 01913123     EISSN: None     Source Type: Journal    
DOI: 10.3109/01913129609016351     Document Type: Article

References (7)

1. Pearson HA, Lobel JS, Kocoshis SA, et al. A new syndrome of refractory sideroblastic anaemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr. 1979;95:976-984.
2. Rötig A, Cormier V, Blanche S, et al. Pearson's marrow-pancreas syndrome: A multisystem mitochondrial disorder in infancy. J Clin Invest. 1990;86:1601-1608.
3. Morikawa Y, Matsuura N, Kakudo K, Higuchi R, Koike M, Kobayashi Y. Pearson's marrow/pancreas syndrome: a histological and genetic study. Virchows Arch [A] 1993;423: 227-231.
4. Sano T, Ban K, Ichiki T, et al. Molecular and genetic analyses of two patients with Pearson's marrow-pancreas syndrome. Pediatr Res. 1993;34:105-110.
5. Morris AAM, Taylor RW, Birch-Machin MA, et al. Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain. Pediatr Nephrol. 1995;9:407-411.
6. Niaudet P, Heidet L, Munnich A, et al. Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome. Pediatr Nephrol. 1994;8: 164-168.
7. Szabolcs M, Seigle R, Shanske S, Bonilla E, DiMauro S, D'Agati V. Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy. Kidney Int. 1994;45:1388-1396.