Skin biopsy for the diagnosis of alport syndrome

Hippokratia

Volumn 12, Issue 2, 2008, Pages 116-118

  Lagona, E ^a,b   Tsartsali, L ^a   Kostaridou, S ^a   Skiathitou, A ^a   Georgaki, E ^b   Sotsiou, F ^c  

^a UNIVERSITY OF ATHENS   (Greece)

^b AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^c EVANGELISMOS HOSPITAL   (Greece)

Author keywords

Alport syndrome; Collagen genes; Collagen type IV; Renal biopsy; Skin biopsy

Indexed keywords

ALPORT SYNDROME; ARTICLE; CASE REPORT; DIAGNOSTIC VALUE; FAMILY HISTORY; HUMAN; IMMUNOFLUORESCENCE TEST; MALE; MINIMALLY INVASIVE SURGERY; PHYSICAL EXAMINATION; PRESCHOOL CHILD; SKIN BIOPSY; X CHROMOSOME LINKED DISORDER;

EID: 41549154687     PISSN: 11084189     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Kashtan CE. Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. Medicine (Baltimore) 1999; 78: 338-360
2. Pescucci C, Francesca M. Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. Kidney Int 2004; 65: 1598-1603
3. Tazon Vega B, Badenas C, Ars E, et al. Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases. Am J Kidney Dis 2003; 42: 952-959
4. Massella L, Onetti Muda A, Faraggiana T, Bette C, Renieri A, Rizzoni G. Epidermal basement membrane alpha 5 (IV) expression in females with Alport syndrome and severity of renal disease. Kidney Int 2003; 64: 1787-1791
5. Inoue Y, Nishio H, Shirakawa T, et al. Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing. Am J Kidney Dis 1999; 34: 854-862
6. Byrne MC, Budisavlijevic MN, Fan Z, Self SE, Ploth DW. Renal transplant in patients with Alport's syndrome. Am J Kidney Dis 2002; 39: 769-775
7. Kalluri R, Shield CF, Todd P, Hudson BG, Neilson EG. Isoform switching of type IV collagen is developmentally arrested in X- linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis. J Clin Invest 1997; 99: 2470-2478
8. Muda AO, Massella L, Giannakakis K, Renieri A, Rizzoni G, Faraggiana T. Confocal microscopy of the skin in the diagnosis of X-linked Alport syndrome. J Invest Dermatol 2003; 121:208-211
9. Jais JP, Knebelmamm B, Giatras I, et al. X-linked Alport syndrome: natural history in 195 families and genotype - phenotype correlations in males. J Am Soc Nephrol 2000; 11:649-657
10. Martin P, Heiskari N, Zhou J, et al. High mutation detection rate in the COL4A5 collagen gene in suspected alport syndrome using PCR and direct DNA sequencing. J Am Soc Nephrol 1998; 9: 2291-2301