Table 1.

Description of patients with APS1 and tubulointerstitial nephritis

Patient 1Patient 2Patient 3
Course of kidney diseaseProgressive development of kidney failure between ages 17 and 20 yrApparent mineralocorticoid excess at 14 yr; arterial hypertension, hypokalemia, low renin activity and low aldosterone. Kidney failure at 25 yrApparent mineralocorticoid excess at 8 yr; arterial hypertension, hypokalemia, low renin activity, and low aldosterone. Hypertensive crisis with right heart ventricle failure at 9 yr. Kidney failure at 9 yr
ManagementKidney transplantation at 23 yrSpironolactone, nifedipine, and KCl started at 14 yr. Peritoneal dialyses started at 25 yr. Kidney transplantation at 27 yrAntihypertensive therapy and KCl started at 8 yr. Peritoneal dialyses started at 9 yr. Kidney transplantation at 12 yr
Kidney tissue pathologyChronic tubulointerstitial nephritis. Tubular atrophy. Interstitial fibrosis with focal, dense lymphocytic infiltrates. Atrophic glomeruli with thickening of Bowman’s capsule and pericapsular fibrosisChronic tubulointerstitial nephritis. Pronounced atrophy of collecting ducts. Interstitial fibrosis. CalcificationsChronic tubulointerstitial nephritis. Tubular atrophy and interstitial fibrosis. Focal lymphocytic infiltrates in the interstitium and occasional intraepithelial lymphocytes. Glomeruli show capsular fibrosis, increased cellularity, and collapsed structure
Urine analysesUrine β2-microglobulin at 1.05 mg/L by18 yrUrine β2-microglobulin at 3.8 mg/24 h by the age of 9 yr
AutoantigenAQP2HOXB7NFAT5
Concomitant disease manifestations (patient age)Hypoparathyroidism (1 yr), adrenal failure (5 yr), alopecia totalis (10 yr), oral candidiasis (13 yr), secondary ovarian failure (14 yr), lingual carcinoma (29 yr), hyposplenia (observed at 39 yr)Hypoparathyroidism (10 yr), oral candidiasis (13 yr), enamel hypoplasia, nail pitting, ovarian failure (26 yr), hypothyroidism (26 yr)Oral candidiasis (first 1 yr), asthma (first 1 yr), severe obstipation (4 yr), hypothyroidism (4 yr), adrenal failure (5 yr), growth hormone deficiency (5 yr), chronic active hepatitis (6 yr), autoimmune hemolytic anemia (6 yr), dry eye syndrome (8 yr)
AIRE gene mutationsARG257TER/ARG257TERARG257TER/ARG257TER967–979DEL13BP/TER546CYS+59AA
  • —, data missing.