Abstract:

Background: To explore the clinical and pathological characteristic of heavy chain deposition disease (HCDD) from Chinese patients. Methodolgy: The clinical and pathological data from eleven patients with  biopsy-proven HCDD were retrospectively analyzed from Jan, 1990 to Oct, 2012. Result: They were 4 males and 7 females with an average age of 48.2±9.9 years old (ranged from 34～65). Nephrotic proteinuria was indentified in 9 cases (81.8%), heamturia in 9 (81.8%), hypertension in 8 (72.7%), renal dysfunction in 6 (54.5%), and anemia in 10 cases (90.9%). None of them was myeloma by the examination of bone marrow biopsy, and serum mono-IgGλ was detected in 4 from 7 cases (57.1%) by serum protein electrophoresis (SPEP). Serum abnormal free light chain (FLC) ratio (<0.26 or >1.65) was observed in 5 cases (45.4%). Hypocomplementemia with C3 and C4 was present in 9 and 7 cases respectively. The levels of urine β-N-Acetyl glucosaminidase (NAG) and retinol-binding protein (RBP) were 75.5?38.2U/(g.cr) and 10.5?10.7mg/L respectively. Histological examination showed glomerular nodular lesion in all patients with crescents in 5 cases (range 4-20%). IF presented the deposition of IgG along glomerular basement membrane and tubular basement membrane in all patients, and on arteriole walls in 8 cases. Subtype of IgG staining indicated IgG1 in 6, IgG2 in one, IgG3 in 2, both IgG2 and IgG4 in one, and both IgG1 and IgG4 in one. The staining of κ、λ chain was both negative. Dense deposits were identified in glomeruli GBM and along TBM. Conclusion: HCDD characterized by nephrotic proteinuria, hypertension, renal dysfunction and nodular lesion frequently accompanied with ? heavy chain and mono IgG1 deposition.