Membranoproliferative glomerulonephritis type II and Niemann-Pick disease type C

Nephrology Dialysis Transplantation

Volumn 17, Issue 10, 2002, Pages 1829-1831

  Philit, Jean Baptiste ^a,c   Queffeulou, Guillaume ^a   Walker, Francine ^a   Gubler, Marie Claire ^b   Dupuis, Emmanuel ^a   Vrtovsnik, François ^a   Mignon, Françoise ^a  

^a BICHAT HOSPITAL   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c EDOUARD HERRIOT HOSPITAL   (France)

Author keywords

MPGN type II; Niemann Pick disease type C

Indexed keywords

CREATININE; PERINDOPRIL; SERUM ALBUMIN; SPHINGOMYELIN PHOSPHODIESTERASE;

ADULT; ALBUMIN BLOOD LEVEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE MARROW EXAMINATION; CASE REPORT; CONTROLLED STUDY; CREATININE BLOOD LEVEL; DISEASE ASSOCIATION; ENZYME ACTIVITY; FIBROBLAST CULTURE; GENE MUTATION; HEMATURIA; HEPATOSPLENOMEGALY; HISTOLOGY; HUMAN; KIDNEY BIOPSY; KIDNEY FUNCTION TEST; MALE; MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS; NIEMANN PICK DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEINURIA;

EID: 0036797515     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/17.10.1829     Document Type: Article

References (9)

1. Pentchev PG, Vanier MT. Niemann-Pick disease type C: a cellular cholesterol lipidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease, 7th Edn. MC Graw Hill, New York, 1995; 2625-2639
2. Schuchman EH, Desnik R. Niemann-Pick disease type A and B: acid sphingomyelinase deficiencies. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and Molecular Bases of Inherited Disease, 7th Edn. MC Graw Hill, New York, 1995; 2601-2624
3. Kruth HS, Comly ME, Butler JD, Vanier MT, Fink JK, Wenger DA. Type C Niemann-Pick disease. Abnormal metabolism of low density lipoprotein in homozygous and heterozygous fibroblasts. J Biol Chem 1986; 261: 16769-16774
4. Vanier MT, Rodriguez-Lafrasse C, Rousson R et al. Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta 1991; 1096: 329-375
5. Vanier MT, Wenger DA, Comly ME, Rousson R, Brady RO, Pentchev PG. Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients. Clin Genet 1988; 33: 331-48
6. Smanik EJ, Tavill AS, Jacobs GH et al Orthotopic liver transplantation in two adults with Niemann-Pick and Gaucher's diseases: implications for the treatment of inherited metabolic disease. Hepatology 1993; 17: 42-49
7. Kolodny EH. Niemann-Pick disease. Curr Opin Hematol 2000; 7: 48-52
8. Millat G, Marçais C, Rafi MA et al. Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype. Am J Hum Genet 1999; 65: 1321-1329
9. Briere J, Calman F, Lageron A, Hinglais N, Emerit J, Bernard J. Adult Niemann-Pick disease: a 26 years follow-up. Report of a case with isolated visceral involvement, excess of tissue sphingomyelin and deficient sphingomyelinase activity. Nouv Rev Fr Hematol 1976; 16: 185-202