BACKGROUND: Patients with a rare genetic disease may receive renal transplantation (KTx) without a correct diagnosis of causal nephropathy and therefore develop unexpected and even severe complications. The aim of the study was to describe the cases of rare genetic disorders diagnosed after KTx, in order to draw clinical lessons for the transplant physician. METHODS: We retrospectively assessed all patients who had received a diagnosis of a rare genetic disorder after KTx. RESULTS: In our center, more than 30% (278/911) of kidney transplant (KTx) recipients were diagnosed with a causal nephropathy: Prevalence of rare genetic disorders in this group was 4.32% (12/278), including 2,8-dihydroxyadeninuria (2,8-DHA) disease (n = 2), HNF-1B-associated nephropathy (n = 2), UMOD-related nephropathy (n = 5), Fabry disease (n = 1), INF2 focal segmental glomerulosclerosis (n = 1), and Senior-Løken syndrome (n = 1). 2,8-DHA nephropathy relapsed in both patients causing an acute renal failure and jeopardizing the graft. CONCLUSIONS: Kidney transplant recipients without a diagnosis of causal nephropathy appear to be a selected population in which rare genetic diseases might be more common than expected. As even a belated diagnosis after KTx can have a significant impact on graft and patient survival and on other family members, this possibility should be evaluated in KTx recipients without a known causal nephropathy.
BACKGROUND:Patients with a rare genetic disease may receive renal transplantation (KTx) without a correct diagnosis of causal nephropathy and therefore develop unexpected and even severe complications. The aim of the study was to describe the cases of rare genetic disorders diagnosed after KTx, in order to draw clinical lessons for the transplant physician. METHODS: We retrospectively assessed all patients who had received a diagnosis of a rare genetic disorder after KTx. RESULTS: In our center, more than 30% (278/911) of kidney transplant (KTx) recipients were diagnosed with a causal nephropathy: Prevalence of rare genetic disorders in this group was 4.32% (12/278), including 2,8-dihydroxyadeninuria (2,8-DHA) disease (n = 2), HNF-1B-associated nephropathy (n = 2), UMOD-related nephropathy (n = 5), Fabry disease (n = 1), INF2 focal segmental glomerulosclerosis (n = 1), and Senior-Løken syndrome (n = 1). 2,8-DHA nephropathy relapsed in both patients causing an acute renal failure and jeopardizing the graft. CONCLUSIONS: Kidney transplant recipients without a diagnosis of causal nephropathy appear to be a selected population in which rare genetic diseases might be more common than expected. As even a belated diagnosis after KTx can have a significant impact on graft and patient survival and on other family members, this possibility should be evaluated in KTx recipients without a known causal nephropathy.
Authors: Emilie Cornec-Le Gall; Rory J Olson; Whitney Besse; Christina M Heyer; Vladimir G Gainullin; Jessica M Smith; Marie-Pierre Audrézet; Katharina Hopp; Binu Porath; Beili Shi; Saurabh Baheti; Sarah R Senum; Jennifer Arroyo; Charles D Madsen; Claude Férec; Dominique Joly; François Jouret; Oussamah Fikri-Benbrahim; Christophe Charasse; Jean-Marie Coulibaly; Alan S Yu; Korosh Khalili; York Pei; Stefan Somlo; Yannick Le Meur; Vicente E Torres; Peter C Harris Journal: Am J Hum Genet Date: 2018-04-26 Impact factor: 11.025
Authors: Christine Gast; Anthony Marinaki; Monica Arenas-Hernandez; Sara Campbell; Eleanor G Seaby; Reuben J Pengelly; Daniel P Gale; Thomas M Connor; David J Bunyan; Kateřina Hodaňová; Martina Živná; Stanislav Kmoch; Sarah Ennis; G Venkat-Raman Journal: BMC Nephrol Date: 2018-10-30 Impact factor: 2.388