Introduction:
Autoimmune polyglandular syndrome type 1 (APS1) is a rare autosomal recessive disorder characterized by decreased central immune tolerance due to mutations in the autoimmune regulatory gene. The main clinical manifestations of APS1 are hypoparathyroidism, Addison disease, chronic mucocutaneous candidiasis. Renal complications associated with APS1 are less described. But pts with APS1 have multiple risk factors (autoimmunity, vitD3 and calcium treatment, hypomagnesemia, etc.) for CKD. We aimed to define the spectrum of kidney diseases in sample of APS1 children.
Methods:
Clinical and laboratory data of 7 girls with APS1 (age of APS1 manifestation 1,5 [0,2;4] years; follow up 8,5±2 years) were analized in single center study; eGFR was calculated by Schwartz equation.
Results:
All children had CKD (CKD stage 2-3 in 5 pts) diagnosed at age 5,4±1,9 years due UTI (n=3) or during routine examination (n=4). Nephrocalcinosis was the main kidney manifestation (documented hypercalcemia in 2 cases), renal tubular acidosis was seen in 3 pts (table). During FU (age 9,6±3,1 years) 5 pts had CKD progression (CKD stage 2, 3 and 4 was diagnosed in 3, 3 and 1 pts, respectively); kidney biopsy demonstrated chronic TIN (IF negative) with focal-global glomerulosclerosis in 3 cases.
Table. Features of kidney disease in children with APS1 (n=7)
Conclusions:
The data showed that (1) the kidney (along with other organs) is target organ in APS1; (2) the renal dysfunction is diagnosed late in APS1 children; (3) the spectrum of kidney injuries associated with APS1 is mostly represented by nephrocalcinosis (due to treatment of hypoparathyroidism? immune-mediated RTA?); (4) the pts with APS1 had high risk of CKD progression; (5) the regular renal monitoring (including hemogas analysis), close treatment control and interprofessional team management are necessary for any APS1 pts.
I have no potential conflict of interest to disclose.
I did not use generative AI and AI-assisted technologies in the writing process.