Outcomes of Male Patients with Alport Syndrome Undergoing Renal Replacement Therapy

Temme, Johanna; Kramer, Anneke; Jager, Kitty J.; Lange, Katharina; Peters, Frederik; Müller, Gerhard A.; Kramar, Reinhard; Heaf, James; Finne, Patrik; Pálsson, Runólfur; Reisæter, Anna Varberg; Hoitsma, Andries J.; Metcalfe, Wendy; Postorino, Maurizio; Zurriaga, Óscar; Santos, Julio Pascual; Ravani, Pietro; Jarraya, F.; Verrina, Enrico; Dekker, Friedo W.; Groß, Oliver

doi:10.2215/cjn.02190312

Cited by 59 publications

(34 citation statements)

References 26 publications

(31 reference statements)

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“…As a result, the integrity of the glomerular filtration barrier is disrupted, resulting in initial glomerular hemodynamic changes and, thereafter, progressive glomerular and tubulointerstitial fibrosis accompanied by severe inflammation (14). Severity of the gene mutation is associated with earlier onset of disease and faster progression (15). Ocular and auditory problems often accompany renal dysfunction because of the defective basement membranes in these organs.…”

Section: Anti-mir-21 Oligonucleotides Protect Against Kidney Failure mentioning

confidence: 99%

Anti–microRNA-21 oligonucleotides prevent Alport nephropathy progression by stimulating metabolic pathways

Gomez¹,

MacKenna²,

Johnson³

et al. 2014

J. Clin. Invest.

337

317

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Section: Anti-mir-21 Oligonucleotides Protect Against Kidney Failure mentioning

confidence: 99%

Anti–microRNA-21 oligonucleotides prevent Alport nephropathy progression by stimulating metabolic pathways

Gomez¹,

MacKenna²,

Johnson³

et al. 2014

J. Clin. Invest.

337

317

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“…44,45 Affected female family members should be strongly discouraged from donating a kidney, but where this has occurred, both the donor and the recipient should receive nephroprotective treatment, such as renin-angiotensin system blockade, from the time of surgery. Three percent to 5% of males develop anti-GBM disease with rapid allograft loss after transplantation.…”

Section: Renal Transplantationmentioning

confidence: 99%

Expert Guidelines for the Management of Alport Syndrome and Thin Basement Membrane Nephropathy

Savige

Gregory

Groß³

et al. 2013

Journal of the American Society of Nephrology

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294

282

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Few prospective, randomized controlled clinical trials address the diagnosis and management of patients with Alport syndrome or thin basement membrane nephropathy. Adult and pediatric nephrologists and geneticists from four continents whose clinical practice focuses on these conditions have developed the following guidelines. The 18 recommendations are based on Level D (Expert opinion without explicit critical appraisal, or based on physiology, bench research, or first principles-National Health Service category) or Level III (Opinions of respected authorities, based on clinical experience, descriptive studies, or reports of expert committees-U.S. Preventive Services Task Force) evidence. The recommendations include the use of genetic testing as the gold standard for the diagnosis of Alport syndrome and the demonstration of its mode of inheritance; the need to identify and follow all affected members of a family with X-linked Alport syndrome, including most mothers of affected males; the treatment of males with X-linked Alport syndrome and individuals with autosomal recessive disease with renin-angiotensin system blockade, possibly even before the onset of proteinuria; discouraging the affected mothers of males with X-linked Alport syndrome from renal donation because of their own risk of kidney failure; and consideration of genetic testing to exclude X-linked Alport syndrome in some individuals with thin basement membrane nephropathy. The authors recognize that as evidence emerges, including data from patient registries, these guidelines will evolve further.

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“…With the exception of the few patients who develop anti-GBM nephritis, the outcome of renal transplant in patients with Alport syndrome is good. An analysis of 14 registries in Europe showed that patients with Alport syndrome had better renal graft and patient survival than matched controls (51). In those few patients who lost the allograft because of anti-GBM disease, plasmapheresis and rituximab might be tried immediately before retransplant and in the perioperative period.…”

Section: Anti-gbm Nephritis In Alport Syndromementioning

confidence: 99%

De Novo Glomerular Diseases after Renal Transplantation

Ponticelli

Moroni

Glassock

2014

Clinical Journal of the American Society of Nephrology

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Glomerular diseases developing in the kidney allograft are more often recurrences of the original disease affecting the native kidneys. However, in an undefined number of cases de novo, glomerular diseases unrelated to the original disease in the native kidneys can develop in the transplanted kidney. The clinical presentation and histologic features of de novo diseases are often similar to those features observed in patients with primary or secondary GN in the native kidneys. However, in transplanted kidneys, the glomerular, vascular, and tubulointerstitial changes are often intertwined with structural abnormalities already present at the time of transplant or caused by antibody-or cell-mediated allograft rejection, immunosuppressive drugs, or superimposed infection (most often of a viral nature). The pathophysiology of de novo glomerular diseases is quite variable. In rare cases of de novo minimal change disease, circulating factors increasing the glomerular permeability likely participate. Maladaptive hemodynamic changes and tissue fibrosis caused by calcineurin inhibitors or other factors may be involved in the pathogenesis of de novo FSGS. The exposure of cryptic podocyte antigens may favor the development of de novo membranous nephropathy. Many cases of de novo membranoproliferative GN are related to hepatitis C virus infection. Patients with Alport syndrome lacking antigenic epitopes in their glomerular basement membrane may develop antibodies against these glomerular basement membrane antigens expressed in the transplanted kidney. Infection may cause acute GN to have a heterogeneous clinical presentation and outcome. De novo pauci-immune GN in renal transplant is rare. Preexisting or acquired intolerance to glucose may, in the long term, cause diabetic nephropathy. The prognosis of de novo diseases depends on the type of GN, the severity of lesions caused by the alloimmune response, or the efficacy of immunosuppressive therapy. In most cases, the management of de novo glomerular diseases is empirical or elusive.

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Outcomes of Male Patients with Alport Syndrome Undergoing Renal Replacement Therapy

Cited by 59 publications

References 26 publications

Anti–microRNA-21 oligonucleotides prevent Alport nephropathy progression by stimulating metabolic pathways

Anti–microRNA-21 oligonucleotides prevent Alport nephropathy progression by stimulating metabolic pathways

Expert Guidelines for the Management of Alport Syndrome and Thin Basement Membrane Nephropathy

De Novo Glomerular Diseases after Renal Transplantation

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