[Pathology and Genetic Hereditary Kidney Cysts]

Overview

Journal Pathologe

Specialty Pathology

Date 2003 Nov 8

PMID 14605845

Authors

B Hermanns

J Alfer

K Fischedick

A Stojanovic-Dedic

S Rudnik-Schoneborn

R Buttner

K Zerres

Affiliations

Soon will be listed here.

Abstract

The classification of cystic kidney diseases according to the pathologic-anatomic potter classification may be difficult. New molecular genetic findings are important to understand the underlying pathogenesis, but less useful to classify the hereditary diseases. An exact classification of polycystic kidney disease in fetus and children is very important for the human genetic consultation. Therefore, the investigation of pathological anatomy of kidney and liver, as well as the evaluation of additional malformations and family history is necessary. For clinical use the mode of inheritance (autosomal dominant and autosomal recessive) is used to differentiate hereditary polycystic kidney diseases.

References

Zerres K, Mucher G, Bachner L, Deschennes G, Eggermann T, Kaariainen H . Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat Genet. 1994; 7(3):429-32. DOI: 10.1038/ng0794-429. View

Hallermann C, Mucher G, Kohlschmidt N, Wellek B, Schumacher R, Bahlmann F . Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p. Am J Med Genet. 1999; 90(2):115-9. DOI: 10.1002/(sici)1096-8628(20000117)90:2<115::aid-ajmg5>3.0.co;2-s. View

Rudnik-Schoneborn S, John U, Deget F, Ehrich J, Misselwitz J, Zerres K . Clinical features of unilateral multicystic renal dysplasia in children. Eur J Pediatr. 1998; 157(8):666-72. DOI: 10.1007/s004310050908. View

Onuchic L, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z . PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am J Hum Genet. 2002; 70(5):1305-17. PMC: 447605. DOI: 10.1086/340448. View

Scolari F, Puzzer D, Amoroso A, Caridi G, Ghiggeri G, Maiorca R . Identification of a new locus for medullary cystic disease, on chromosome 16p12. Am J Hum Genet. 1999; 64(6):1655-60. PMC: 1377908. DOI: 10.1086/302414. View

Bernstein J . Glomerulocystic kidney disease--nosological considerations. Pediatr Nephrol. 1993; 7(4):464-70. DOI: 10.1007/BF00857576. View

Fuchshuber A, Kroiss S, Karle S, Berthold S, Huck K, Burton C . Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region. Genomics. 2001; 72(3):278-84. DOI: 10.1006/geno.2000.6486. View

. Cloning, legislation and human welfare. Nat Genet. 2001; 30(1):1-2. DOI: 10.1038/ng0102-1. View

Peters D, Spruit L, Saris J, Ravine D, Sandkuijl L, Fossdal R . Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nat Genet. 1993; 5(4):359-62. DOI: 10.1038/ng1293-359. View

10.

Blyth H, OCKENDEN B . Polycystic disease of kidney and liver presenting in childhood. J Med Genet. 1971; 8(3):257-84. PMC: 1469189. DOI: 10.1136/jmg.8.3.257. View

11.

Daoust M, Reynolds D, Bichet D, Somlo S . Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics. 1995; 25(3):733-6. DOI: 10.1016/0888-7543(95)80020-m. View

12.

Doray B, Gasser B, Reinartz I, Stoll C . Hereditary renal adysplasia in a three generations family. Genet Couns. 1999; 10(3):251-7. View

13.

Tran Z, Johnson A, Strain J, Gabow P . Progression of autosomal-dominant polycystic kidney disease in children. Kidney Int. 2001; 59(5):1654-62. DOI: 10.1046/j.1523-1755.2001.0590051654.x. View

14.

Ishikawa I . Acquired cystic disease: mechanisms and manifestations. Semin Nephrol. 1991; 11(6):671-84. View

15.

Rickard S, Parker M, Vant Hoff W, Barnicoat A, Russell-Eggitt I, Winter R . Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. Hum Genet. 2001; 108(5):398-403. DOI: 10.1007/s004390100495. View

16.

Fonck C, Chauveau D, Gagnadoux M, Pirson Y, Grunfeld J . Autosomal recessive polycystic kidney disease in adulthood. Nephrol Dial Transplant. 2001; 16(8):1648-52. DOI: 10.1093/ndt/16.8.1648. View

17.

Gal A, Wirth B, Kaariainen H, Lucotte G, Landais P, Gillessen-Kaesbach G . Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity. Clin Genet. 1989; 35(1):13-9. DOI: 10.1111/j.1399-0004.1989.tb02900.x. View

18.

Lipschitz B, Berdon W, DeFelice A, Levy J . Association of congenital hepatic fibrosis with autosomal dominant polycystic kidney disease. Report of a family with review of literature. Pediatr Radiol. 1993; 23(2):131-3. DOI: 10.1007/BF02012406. View

19.

Zerres K, Mucher G, Becker J, Steinkamm C, Rudnik-Schoneborn S, Heikkila P . Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am J Med Genet. 1998; 76(2):137-44. View

20.

AVASTHI P, ERICKSON D, Gardner K . Hereditary renal-retinal dysplasia and the medullary cystic disease-nephronophthisis complex. Ann Intern Med. 1976; 84(2):157-61. DOI: 10.7326/0003-4819-84-2-157. View