Introduction: Autoimmune Polyglandular Syndrome Type 1 (APS-1) is a rare autosomal recessive hereditary disorder resulting from a mutation in the AIRE gene. APS-1 is characterized by three classic clinical features: hypoparathyroidism, Addisons disease and chronic mucocutaneous candidiasis. Additionally to the classic triad, the phenotype of APS-1 includes several endocrine and non-endocrine autoimmune manifestations. Purpose:Topresent a rapid onset and progression of chronic kidney disease (CKD) in a boy with APS-1. Case Presentation: A 10-year-old Greek boy was diagnosed with APS-1 at the age of 26/12 years old. At the age of 6 years he was diagnosed with hypothyroidism due to Hashimotos thyroiditis. Despite the good thyroid function control, he presented with short stature while growth hormone deficiency and coeliac disease were excluded. He was under substitution therapy with hydrocortisone, fludrocortisone, levothyroxine, alfacalcidol as well as calcium, magnesium, dactarin oral gel and nystatin mouthwash. At the age of 10 years old he presented on his annual routine follow up with high levels of creatinine, urea and anemia; however, serum sodium, potassium, calcium and phosphorus levels were within normal range. Clinical examination revealed no pathological findings except from short stature and decreased height velocity. Further nephrological assessment with 24 hour urine collection confirmed the renal function impairment. Over the next few weeks and while creatinine levels had up-regulated, a 51Cr- EDTA glomerular filtration rate (GFR) assessment and a renal biopsy were conducted. GFR was measured at 33 ml/min/1,73 m2 and renal biopsy revealed findings of transmembrane nephritis, few tubular calcifications and chronic vascular lesions, leading to the diagnosis of stage 3b CKD. Autoimmune disease evaluation was negative. Pending the whole exome sequencing results, the patient remains under very strict serum creatinine, pH, electrolyte and GFR follow up, while future renal replacement therapy seems unavoidable. Conclusion: Severe renal disease is a rare clinical manifestation in APS-1 and its prevalence varies from 217% in both children and adults; underlying pathogenetic mechanism remains unclear. A very few cases of end-stage renal disease in children with APS-1 have till now been reported, while no adjuvant therapy (high doses of corticosteroids or monoclonal antibodies) managed to delay the progression of the disease. Prognosis remains poor and renal replacement therapy or transplantation seems the only existing therapeutic approaches.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology