Calcinosi pseudotumorale iperfosfatemica da mutazione di FGF23 con amiloidosi secondaria [Hyperphosphatemic pseudotumoral calcinosis due to FGF23 mutation with secondary amyloidosis]

A 44 years old man was admitted for nephrotic syndrome and rapidly progressive renal failure. Two firm, tumour-like masses were localized around the left shoulder and the right hip joint. Since the age of 8 years old, the patient had a history of metastatic calcification of the soft tissues suggesting hyperphosphatemic pseudotumoral calcinosis. Despite treatment for a long time with phosphate binders the metastatic calcinosis had to be removed with several surgeries. The patient had also a history of recurrent fever associated with pain localized toward the two masses and underwent multiple antibiotic courses. Laboratory findings at admission confirmed nephrotic syndrome. S-creatinine was 2.8 mg/dl. Calcium was 8.4 mg/dl, Phosphorus 8.2 mg/dl, PTH 80 pg/ml, 25 (OH)VitD 8 ng/ml. Serum amyloid A was slightly increased. We performed renal biopsy and we found AA amyloid deposits involving the mesangium and the tubules. The bone marrow biopsy revealed the presence of AA amyloid in the vascular walls. During the next two months renal failure rapidly progressed and the patient started hemodialysis treatment. We performed genetic analysis that confirmed homozygous mutation of the FGF23 gene. After 14 months on hemodialysis, the patient's lesions are remarkably and significantly reduced in dimension. The current phosphate binder therapy is based on sevelamer and lanthanum carbonate. Serum amyloid A is persistently slightly increased as well as C reactive protein. Proteinuria is in the nephrotic range without nephrotic syndrome.