TY - JOUR
T1 - An overlapping case of IgG4-related disease and klinefelter syndrome with lupus-like serological and neurological features
T2 - A case report and literature review
AU - Takanashi, Satoshi
AU - Hanaoka, Hironari
AU - Ota, Yuichiro
AU - Kaneko, Yuko
AU - Takeuchi, Tsutomu
N1 - Publisher Copyright:
© 2020 Japanese Society of Internal Medicine. All rights reserved.
PY - 2020/10/15
Y1 - 2020/10/15
N2 - A 46-year-old man with Klinefelter syndrome (KS) presented with obliterative phlebitis of the lower legs with a deteriorated renal function, and elevated serum alkaline phosphatase and ataxia levels. Examinations demonstrated tubulointerstitial nephritis, obliterative phlebitis and lymphadenopathy with IgG4+ plasma cell infiltrate and sclerosing cholangitis. Although the serological profile and central nerve system involvement were compatible for systemic lupus erythematosus (SLE), a definite diagnosis of SLE was difficult to make. IgG4-related disease (IgG4-RD) with KS was finally diagnosed, and high dose prednisolone with intravenous cyclophosphamide was initiated and thereafter the patient demonstrated a prompt improvement. This is the first known case demonstrating overlapping IgG4-RD with lupus-like serological and neurological features in a patient with KS, thus highlighting the pathogenic role with the genomic background for IgG4-RD and SLE.
AB - A 46-year-old man with Klinefelter syndrome (KS) presented with obliterative phlebitis of the lower legs with a deteriorated renal function, and elevated serum alkaline phosphatase and ataxia levels. Examinations demonstrated tubulointerstitial nephritis, obliterative phlebitis and lymphadenopathy with IgG4+ plasma cell infiltrate and sclerosing cholangitis. Although the serological profile and central nerve system involvement were compatible for systemic lupus erythematosus (SLE), a definite diagnosis of SLE was difficult to make. IgG4-related disease (IgG4-RD) with KS was finally diagnosed, and high dose prednisolone with intravenous cyclophosphamide was initiated and thereafter the patient demonstrated a prompt improvement. This is the first known case demonstrating overlapping IgG4-RD with lupus-like serological and neurological features in a patient with KS, thus highlighting the pathogenic role with the genomic background for IgG4-RD and SLE.
KW - Autoimmune disease
KW - Chromosomal disorder
KW - IgG4-related disease
KW - Klinefelter syndrome
KW - Systemic lupus erythematosus
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U2 - 10.2169/internalmedicine.4888-20
DO - 10.2169/internalmedicine.4888-20
M3 - Review article
C2 - 32581168
AN - SCOPUS:85093539420
VL - 59
SP - 2601
EP - 2609
JO - Internal Medicine
JF - Internal Medicine
SN - 0918-2918
IS - 20
ER -