Outcomes of Male Patients with Alport Syndrome Undergoing Renal Replacement Therapy

Overview

Journal Clin J Am Soc Nephrol

Specialty Nephrology

Date 2012 Sep 22

PMID 22997344

Citations 27

Authors

Johanna Temme

Anneke Kramer

Kitty J Jager

Katharina Lange

Frederick Peters

Gerhard-Anton Muller

Reinhard Kramar

James G Heaf

Patrik Finne

Runolfur Palsson

Anna V Reisaeter

Andries J Hoitsma

Wendy Metcalfe

Maurizio Postorino

Oscar Zurriaga

Julio P Santos

Pietro Ravani

Faical Jarraya

Enrico Verrina

Friedo W Dekker

Oliver Gross

Affiliations

Soon will be listed here.

Abstract

Background And Objectives: Patients with the hereditary disease Alport syndrome commonly require renal replacement therapy (RRT) in the second or third decade of life. This study compared age at onset of RRT, renal allograft, and patient survival in men with Alport syndrome receiving various forms of RRT (peritoneal dialysis, hemodialysis, or transplantation) with those of men with other renal diseases.

Design, Setting, Participants, & Measurements: Patients with Alport syndrome receiving RRT identified from 14 registries in Europe were matched to patients with other renal diseases. A linear spline model was used to detect changes in the age at start of RRT over time. Kaplan-Meier method and Cox regression analysis were used to examine patient and graft survival.

Results: Age at start of RRT among patients with Alport syndrome remained stable during the 1990s but increased by 6 years between 2000-2004 and 2005-2009. Survival of patients with Alport syndrome requiring dialysis or transplantation did not change between 1990 and 2009. However, patients with Alport syndrome had better renal graft and patient survival than matched controls. Numbers of living-donor transplantations were lower in patients with Alport syndrome than in matched controls.

Conclusions: These data suggest that kidney failure in patients with Alport syndrome is now being delayed compared with previous decades. These patients appear to have superior patient survival while undergoing dialysis and superior patient and graft survival after deceased-donor kidney transplantation compared with patients receiving RRT because of other causes of kidney failure.

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References

van Dijk P, Jager K, de Charro F, Collart F, Cornet R, Dekker F . Renal replacement therapy in Europe: the results of a collaborative effort by the ERA-EDTA registry and six national or regional registries. Nephrol Dial Transplant. 2001; 16(6):1120-9. DOI: 10.1093/ndt/16.6.1120. View

Gross O, Netzer K, Lambrecht R, Seibold S, Weber M . Novel COL4A4 splice defect and in-frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome. Nephrol Dial Transplant. 2003; 18(6):1122-7. DOI: 10.1093/ndt/gfg157. View

Mochizuki T, Lemmink H, Mariyama M, Antignac C, Gubler M, Pirson Y . Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet. 1994; 8(1):77-81. DOI: 10.1038/ng0994-77. View

Hudson B, Tryggvason K, Sundaramoorthy M, Neilson E . Alport's syndrome, Goodpasture's syndrome, and type IV collagen. N Engl J Med. 2003; 348(25):2543-56. DOI: 10.1056/NEJMra022296. View

Temme J, Peters F, Lange K, Pirson Y, Heidet L, Torra R . Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations. Kidney Int. 2012; 81(8):779-83. DOI: 10.1038/ki.2011.452. View

Berardinelli L, Pozzoli E, Raiteri M, Canal R, Tonello G, Tarantino A . Renal transplantation in Alport's syndrome. Personal experience in twelve patients. Contrib Nephrol. 1990; 80:131-4. View

Fleming S, Savage C, McWilliam L, Pickering S, Ralston A, Johnson R . Anti-glomerular basement membrane antibody-mediated nephritis complicating transplantation in a patient with Alport's syndrome. Transplantation. 1988; 46(6):857-9. DOI: 10.1097/00007890-198812000-00013. View

Gross O, Beirowski B, Koepke M, Kuck J, Reiner M, Addicks K . Preemptive ramipril therapy delays renal failure and reduces renal fibrosis in COL4A3-knockout mice with Alport syndrome. Kidney Int. 2003; 63(2):438-46. DOI: 10.1046/j.1523-1755.2003.00779.x. View

Kashtan C . Renal transplantation in patients with Alport syndrome. Pediatr Transplant. 2006; 10(6):651-7. DOI: 10.1111/j.1399-3046.2006.00528.x. View

10.

Lemmink H, Schroder C, Monnens L, Smeets H . The clinical spectrum of type IV collagen mutations. Hum Mutat. 1997; 9(6):477-99. DOI: 10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#. View

11.

Alport A . HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS. Br Med J. 2010; 1(3454):504-6. PMC: 2454341. DOI: 10.1136/bmj.1.3454.504. View

12.

Bleyer A, Donaldson L, McIntosh M, Adams P . Relationship between underlying renal disease and renal transplantation outcome. Am J Kidney Dis. 2001; 37(6):1152-61. DOI: 10.1053/ajkd.2001.24516. View

13.

Kashtan C, McEnery P, Tejani A, Stablein D . Renal allograft survival according to primary diagnosis: a report of the North American Pediatric Renal Transplant Cooperative Study. Pediatr Nephrol. 1995; 9(6):679-84. DOI: 10.1007/BF00868709. View

14.

Knebelmann B, Deschenes G, Gros F, Hors M, Grunfeld J, Zhou J . Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments. Am J Hum Genet. 1992; 51(1):135-42. PMC: 1682875. View

15.

Cangiotti A, Sessa A, Meroni M, Montironi R, Ragaiolo M, Mambelli V . Evolution of glomerular basement membrane lesions in a male patient with Alport syndrome: ultrastructural and morphometric study. Nephrol Dial Transplant. 1996; 11(9):1829-34. View

16.

Flinter F, Cameron J, Chantler C, Houston I, Bobrow M . Genetics of classic Alport's syndrome. Lancet. 1988; 2(8618):1005-7. DOI: 10.1016/s0140-6736(88)90753-2. View

17.

Gross O, Licht C, Anders H, Hoppe B, Beck B, Tonshoff B . Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy. Kidney Int. 2011; 81(5):494-501. DOI: 10.1038/ki.2011.407. View

18.

Lanfranconi S, Markus H . COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. Stroke. 2010; 41(8):e513-8. DOI: 10.1161/STROKEAHA.110.581918. View

19.

Antignac C . Molecular genetics of basement membranes: the paradigm of Alport syndrome. Kidney Int Suppl. 1995; 49:S29-33. View

20.

Dische F, Weston M, Parsons V . Abnormally thin glomerular basement membranes associated with hematuria, proteinuria or renal failure in adults. Am J Nephrol. 1985; 5(2):103-9. DOI: 10.1159/000166914. View