LAUSR

Many potential donors are asymptomatic or oligosymptomatic carriers of heterozygous AS mutations with an increased risk for chronic renal failure. The recipient is 11 years old, diagnosed as having Alport syndrome by cataract, hearing loss with cochlear implant, bilateral kidney hypo dysplasia. His mother wants to donate a kidney. The mother is 37 years old, with personal history of thyroidectomy, positive ANA with titer of 1:60, but no hematuria or proteinuria, she does not have hearing or ocular abnormalities. Background: Alport syndrome (AS) is a progressive hereditary renal disease that is characterized by sensorineural hearing loss and ocular abnormalities. It has three modes of inheritance, X-linked Alport syndrome (XLAS) which is caused by pathogenic variants in COL4A5, autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS) which are caused by mutations in COL4A3/COL4A4(1). X-chromosomal AS is estimated at 1:5000 and of autosomal recessive AS at 1:50 000 (2) Alport syndrome accounts for 0.5% of newly developed end stage renal diseases in adults (1). and 12.9% of new cases in children (2). Alport syndrome (AS) is X linked in 80 % of families, a mother of boy with AS is most likely to be heterozygous carrier, donors with overt proteinuria or who have hearing deficit should be rejected (2). Proteinuria increases with age, one recommendation is to donate after the age of 45 (2). Microalbuminuria excludes the others from donation (4). Presence of childhood gross hematuria is a risk factor of CKD progression in heterozygous donors, but anti-GBM nephritis is a rare complication which should not prevent donation (5). Donors are at higher risk of developing hypertension, ACE inhibitors should be started immediately after transplantation (4). Living donor renal transplantation from heterozygous relatives in Alport families is an option with a satisfactory 1and 5-year outcomes in both donor and recipient (4). References: 1. Mallett A, Tang W, Clayton PA, Stevenson S, McDonald SP, Hawley CM, et al. End-stage kidney disease due to Alport syndrome: outcomes in 296 consecutive Australia and New Zealand dialysis and transplant registry cases. Nephrology Dialysis Transplantation. 2014;29(12):2277–86 2. Women with Alport syndrome: risks and rewards of kidney donation * Clifford E. Kashtan Author Notes Nephrology Dialysis Transplantation, Volume 24, Issue 5, May 2009, Pages 1369–1370 3. Hattori M, Sako M, Kaneko T, Ashida A, Matsunaga A, Igarashi T, et al. End-stage renal disease in Japanese children: a nationwide survey during 2006–2011. Clinical Experimental Nephrology. 2015;19(5):933–8 4. Oliver Gross, Manfred Weber.Living donor kidney transplantation from relatives with mild urinary abnormalities in Alport syndrome: long-term risk, benefit and outcome Nephrol Dial Transplant (2009) 24: 1626–1630 5. Sessa A1, Pietrucci A. Renal transplantation from living donor parents in two brothers with Alport syndrome. Can asymptomatic female carriers of the Alport gene be accepted as kidney donors? Nephron 1995;70(1):106-9. P.136