78:
Renal Disease in Chronic Granulomatous Disease: Data from the USIDNET Registry
Saturday, March 3, 2018
South Hall A2 (Convention Center)
Keith A. Sacco, M.D., Avni Y. Joshi, MD
RATIONALE: End-stage renal disease (ESRD) in chronic granulomatous disease (CGD) is anecdotally attributed to use of prophylactic antimicrobials with nephrotoxic potential as well as intrinsic inflammatory/granulomatous complications. However data on prevalence and risk factors for developing ESRD are lacking.

METHODS: We analyzed the spectrum of renal disease in patients with CGD entered in the USIDNET registry. The USIDNET Registry was queried for spectrum of renal disease in CGD patients on May 02, 2017 for all charts entered into the registry till date.

RESULTS: 516 patients with CGD were entered in the database of which 435 (84.3%) were male. Renal disease was identified in 14 patients (2.7%), with equal gender distribution. 12 patients were Caucasian while two were of African American descent. X-linked CGD with CYBB gene mutation was present in 11 (78.6%) while 3 patients had autosomal recessive CGD with NCF1 mutation. Median age of CGD diagnosis was 3.55 years (IQR 0.7-13.25). 10 patients had a diagnosis of ‘Renal Failure’, 2 patients had chronic kidney disease, 1 patient had acute kidney injury, 1 patient had non-specific ‘kidney disease’. Etiology for renal failure was identified in 2 patients (glomerulonephritis and polycystic kidneys). Pneumonia with lung abscesses was the most common documented infection in this cohort (9 patients).Genitourinary infection was documented in 2 patients (pyelonephritis and urinary tract infection).

CONCLUSIONS: Only 3% of USIDNET CGD cohort had documented renal disease. The underlying etiology can be speculated to be multifactorial. Further subgroup analysis is warranted to delineate the renal disease association with CGD.