Collagen alpha5 and alpha2 (IV) chain coexpression: The procedure of choice to diagnose Alport syndrome from skin biopsies;Coexpression des chaînes alpha5 et alpha2 (IV) : une technique de choix pour le diagnostic de syndrome d'Alport à partir d'une biopsie cutanée

Annales de Pathologie

Volumn 28, Issue 3, 2008, Pages 182-186

  Patey Mariaud de Serre, Natacha ^a,b   Noël, Laure Hélène ^a,b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b INSERM   (France)

Author keywords

Alport syndrome; Immunohistochemistry

Indexed keywords

ALPHA5 COLLAGEN; COLLAGEN ALPHA2 CHAIN;

ADULT; ALPORT SYNDROME; ARTICLE; BASEMENT MEMBRANE; CHROMOSOME INACTIVATION; COL4A5 GENE; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; EPIFLUORESCENCE MICROSCOPY; FEMALE; GENE; GENE LOCATION; GENE MUTATION; GENETIC CODE; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; PROTEIN EXPRESSION; SENSITIVITY ANALYSIS; SKIN BIOPSY; TECHNIQUE; X CHROMOSOME;

COLLAGEN TYPE IV; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSCOPY, CONFOCAL; NEPHRITIS, HEREDITARY; SKIN;

EID: 48949091792     PISSN: 02426498     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.annpat.2008.06.002     Document Type: Article

References (9)

1. Knebelmann B., Breillat C., Forestier L., Arrondel C., Jacassier D., Giatras I., et al. Spectrum of mutations in the COL4A5 gene in X-linked Alport syndrome. Am J Hum Genet 59 (1996) 1221-1232
2. Heidet L., Cai Y., Guicharnaud L., Antignac C., and Gubler M.C. Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys. Am J Pathol 156 (2000) 1901-1910
3. Pescucci C., Mari F., Longo I., Vogiatzi P., Caselli R., Scala E., et al. Autosomal dominant Alport syndrome. Natural history of a disease due to COL4A3 or COL4A4 gene. Kidney Int 65 (2004) 1598-1603
4. Gubler M.C. Diagnosis of Alport syndrome without biopsy?. Pediatr Nephrol 22 (2007) 621-625
5. Van Der Loop F., Monnens L.A.H., Schröder C.H., Lemmink H.H., Breuning M.H., Timmer E.D., et al. Identification of col4α5 defects in Alport's syndrome by immunohistochemistry of skin. Kidney Int 55 (1999) 1217-1224
6. Noel L.H., and Patey-Mariaud de Serre N. Syndrome d'Alport : place de la biopsie cutanée. Bull Fr de l'AIP 42 (2005) 44-47
7. Sharp A., Robinson D., and Jacobs P. Age and tissue specific variation of X chromosome inactivation ratios in normal women. Hum Genet 107 (2000) 343-349
8. Patey-Mariaud de Serre N., Garfa M., Bessieres B., Noel L.H., and Knebelmann B. Collagen alpha5 and alpha2 (IV) chain coexpression: analysis of skin biopsies of Alport patients. Kidney Int 72 4 (2007 Aug) 512-516
9. Muda A.O., Massella L., Giannakakis K., Renieri A., Rizzoni G., and Faraggiana T. Confocal microscopy of the skin in the diagnosis of X-linked Alport syndrome. J Invest Dermatol 121 (2003) 208-211