Senior-Loken syndrome

Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.

Nephropathy

A nonspecific term referring to disease or damage of the kidneys.


Total: 3

                       


(per page)
PMID (PMCID)
24961278
 MIXED_SAMPLE Adult
Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy.
Quaglia M, Musetti C, Ghiggeri GM, Fogazzi GB, Settanni F, Boldorini RL, Lazzarich E, Airoldi A, Izzo C, Giordano M, Stratta P.
Clin Transplant. 2014;28(9):995-1003.
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-Loken syndrome (n=1).
24961278
 MIXED_SAMPLE Adult
Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy.
Quaglia M, Musetti C, Ghiggeri GM, Fogazzi GB, Settanni F, Boldorini RL, Lazzarich E, Airoldi A, Izzo C, Giordano M, Stratta P.
Clin Transplant. 2014;28(9):995-1003.
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-Loken syndrome (n=1).
24961278
 MIXED_SAMPLE Adult
Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy.
Quaglia M, Musetti C, Ghiggeri GM, Fogazzi GB, Settanni F, Boldorini RL, Lazzarich E, Airoldi A, Izzo C, Giordano M, Stratta P.
Clin Transplant. 2014;28(9):995-1003.
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-Loken syndrome (n=1).