Focal segmental glomerulosclerosis and partial deletion of chromosome 6p: A case report

Clinical Nephrology

Volumn 76, Issue 1, 2011, Pages 64-67

  Izu A , ^a   Yanagida H , ^a   Sugimoto K , ^a   Fujita S , ^a   Okada M , ^a   Takemura, T ^a  

^a KINKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Chromosome 6; Deletion; Focal segmental glomerulosclerosis; Proteiuria

Indexed keywords

DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; STEROID;

ARTICLE; BRAIN RADIOGRAPHY; CASE REPORT; CELL PROLIFERATION; CHILD; CHROMOSOME 6P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COMPUTER ASSISTED TOMOGRAPHY; CYSTOURETHROGRAPHY; DISEASE COURSE; DRUG TREATMENT FAILURE; FEEDING DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOCAL GLOMERULOSCLEROSIS; HUMAN; HYDRONEPHROSIS; KARYOTYPE 46,XX; KIDNEY BIOPSY; MENTAL DEFICIENCY; MESANGIUM CELL; MULTIPLE MALFORMATION SYNDROME; PROTEINURIA; SCHOOL CHILD; SHORT STATURE; STENOSIS; BIOPSY; CHROMOSOME 6; GENETICS; KIDNEY; PATHOLOGY; RADIOGRAPHY;

ABNORMALITIES, MULTIPLE; BIOPSY; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; FEMALE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; KIDNEY;

EID: 79952381802     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: 10.5414/CN106587     Document Type: Article

References (17)

1. Albig W, Drabent B, Kunz J, Kalff-Suske M, Grzeschik KH, Doenecke D. All known H1 histon genes except the H1(0) gene are clustered on chromosome 6. Genomics. 1993; 16: 649-654.
2. D'Agati V. D. 2008. The spectrum of focal segmental glomerulosclerosis: new insights. Curr Opin Nephrol Hypertens. 1993; 17: 271-281.
3. Davies AF, Olavesen MG, Stephens RJ, Davidson R, Delneste D, van Regemorter N, Vamos E, Flinter F, Abusaad I, Ragoussis J. A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome. Hum Genet. 1996; 98: 454-459.
4. Davies AF, Mirza G, Sekhon G, Turnpenny P, Leroy F, Speleman F, Law C, van Regemorter N, Vamos E. Flinter F, Ragoussis J. Delineation of two distinct 6p deletion syndromes. Hum Genet. 1999; 104: 64-72.
5. Hocher B, Thöne-Reineke C, Rohmeiss P, Schmager Slowinski T, Burst V, Siegmund F, Quertermous T, Bauer C, Neumayer HH, Schleuning WD, Theuring F. Endothelin-1 transgenic mice develop glomerulosclerosis, interstitial fibrosis, and renal cysts but not hypertension. J Clin Invest. 1997; 99: 1380-1389.
6. Joh K, Usui N, Aizawa S, Yamaguchi Y, Chiba S, Takahashi T, Muramatsu Y, Sakai S. Focal segmental glomerulosclerosis associated with infantile spasms in five mentally retarded children: a morphological analysis on mesangiolysis. Am J Kidney Dis. 1991; 17: 569-577.
7. Kume T, Deng KY, Winfrey V, Gould DB, Walter MA, Hogan BL. The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus. Cell. 1998; 93:985-996.
8. Kurihara Y, Kurihara H, Suzuki H, Kodama T, Maemura K, Nagai R, Oda H, Kuwaki T, Cao WH, Kamada N, Jishage K, Ouchi Y, Azuma S, Toyoda Y, Ishikawa T, Kumada M, Yazali Y. Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1. Nature. 1994; 368:703-710.
9. Law C, Fisher A, Temple K. Distal 6p deletion syndrome; a case report and review of the literature. J Med Genet. 1998; 35: 685-689.
10. Matilla A, Roberson ED, Banfi S, Morales J, Armstrong DL, Burright EN, Orr HT, Sweatt JD, Zoghbi HY, Matzuk MM. Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation. J Neurosci. 1998; 18: 5508-5516.
11. Palmer CG, Bader P, Slovac ML, Coming DE, Pettenati MJ. Partial deletion of Chromosome 6p: Delineation of the syndrome. Am J Med Genet. 1991; 39: 155-160.
12. Rukstalis DB, Bubley GJ, Donahue JP, Richie JP, Seidman JG, DeWolf WC. Regional loss of chromosome 6 in two urological malignancies. Cancer Res. 1989; 49: 5087-5090.
13. Sartelet H, Pietrement C, Noel LH, Sabouraud P, Birembaut P, Oligny LL, Roussel B, Doco-Fenzy M. Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature. Pathol Res Pract. 2008; 204: 401-406.
14. Schulz A, Weiss J, Schlesener M, Hänsch J, Wehland M, Wendt N, Kossmehl P, Sietmann A, Grimm D, Stoll M, Nyengaard JR, Kreutz R. Development of overt proteinuria in the Munich Wistar Frömter rat is suppressed by replacement of chromosome 6 in a consomic rat strain. J Am Soc Nephrol. 2007; 18: 113-121.
15. Solloway MJ, Dudley AT, Bikoff EK, Lyons KM, Hogan BL, Robertson EJ. Mice lacking Bmp6 function. Dev Genet. 1998; 22: 321-339.
16. Suwanrath-Kengpol C, Limprasert P, Mitarnun W. Prenatal diagnosis of deletion of chromosome 6p presenting with hydrops fetalis. Prenat Diagn. 2004; 24: 887-889.
17. Suzuki K, Nakamura M, Amano E, Mokuno K, Shirai S, Terasaki H. Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous. Am J Med Genet. 2006; 140: 503-508.