Amyloidoses are life-threatening diseases. Renal Amyloidosis is determined by extracellular deposition of amyloid fibrils within the kidney compartments. Most renal amyloidosis is either the result of primary fibrillar deposits of immunoglobulin light chains (AL) or secondary to fibrillar deposits of serum amyloid A (AA) protein fragments. Renal involvement can be found in some hereditary forms of amyloidosis. Familial Mediterranean fever (FMF) is the most widely known and the most prevalent of these inherited disorders. Hyperimmunoglobulinemia D syndrome (HIDS) is a much rarer disease than FMF. HIDS has been described mainly in European populations. It is inherited in autosomal recessive manner. The defective gene resides on chromosome 12q and encodes the enzyme mevalonate kinase. HIDS is characterized by recurrent, self-limiting attacks of fever occurring since early childhood. Febrile episodes usually last 3–7 days and are variably associated with headache, arthralgias, lymphadenopathy, abdominal pain, diarrhea, vomiting, and skin lesions. Amyloidosis has been reported only rarely in HIDS.

Since the first months of life, a 29-year-old man of southern Italian ancestry experienced characteristic febrile attacks with sore throat, myalgias, vomiting and diarrhoea. Later the attacks of fever reduced their frequency but in the last year there was an increased frequency of febrile episodes with nephrotic proteinuria; laboratory examinations showed proteinuria 9.17 g/24 h, a raised erytrocite sedimentation rate, a normal PCR, leukocytosis, serum amyloid 3.67mg/L, serum IgD 233 UI/ml, Creatinine 1.09 mg/dl. Kidney biopsy: among 28 glomeruli, 18 with weakly eosinophilic amorphous material infiltrating the mesangium (Fig. 1-2). After positive Congo red staining, the deposits revealed apple-green birefringence under polarized light, consistent with the presence of amyloid (Fig. 3). On immunochemistry, amyloid deposits were negative for antibodies against kappa and lambda chains (Fig.4). Clinical and laboratory findings suggested diagnosis of HIGD. The research for TNFRSF1A mutations was negative; the research for 2 MVK mutations was positive in heterozygosis, thus confirming the clinical diagnosis of HIGD. The patient started therapy with Anakinra.