Alpha1 antitrypsin phenotypic variability is not associated with ANCA in southern Chinese.
نویسندگان
چکیده
salivary gland tissue. Additionally, thyroid function tests showed a raised thyroid stimulating hormone (11 mU/l), low free thyroxine 4 (13.0 pmol/l) with positive antithyroid microsomal antibodies and negative antithyroglobulin antibodies. The clinical, serological, and histopathological manifestations fulfilled the European study group criteria for the diagnosis of SS. The patient was treated with artificial tears and thyroxine supplements that returned her thyroid function tests to normal. Prevalence of neuropathy in patients with SS ranges from 10 to 50%. Polyneuropathy can be the first clinical manifestation of SS and may even precede sicca symptoms in 40% of patients. However, less frequently, cranial neuropathy can occur with a predisposition to involvement of the trigeminal nerve. The vasculitic damage to vaso nervorum documented by pathological studies is associated with a higher incidence of serum anti-SS-A (Ro) antibodies. The association of SS with autoimmune thyroid disease (AITD) is well recognised. 7 AITD and SS share similarities in the immunopathology in addition to their genetic linkage to the HLADR3/DR4 alleles. Only nine cases of facial nerve involvement associated with SS have been described previously. 8–10 This case illustrates how facial palsy disclosed the primary SS as an underlying systemic disorder. To our knowledge the combination Bell’s palsy as presenting feature in a patient with SS, and hypothyroidism secondary to AITD has not been reported hitherto.
منابع مشابه
alpha-1 antitrypsin phenotypes by isoelectric focusing in a metropolitan southern Chinese population.
AIMS/BACKGROUND alpha-1 antitrypsin (alpha1AT) is an abundant protease inhibitor in human plasma. Its phenotypic variability has been reported to be associated with pulmonary emphysema and chronic liver diseases. However, alpha1AT deficiency is an uncommon condition in the Chinese population. The aim of this study was to describe the phenotypic distribution of alpha1AT in a southern Chinese pop...
متن کاملIsoelectric Focusing and PCR-RFLP Joined Techniques for Alpha1-antitrypsin Deficiency Detection
53 persons suspected to alpha1-antitrypsin deficiency detection (AATD) were investigated for ZZ, MZ, ZS, SS, and MS alleles analysis by serum protein electrophoresis (SPE), measurement of trypsin inhibiting capacity (TIC), isoelectric focusing (IEF), polymerase chain reaction (PCR), and IEF/PCR-RFLP techniques. The result clearly shows by using SPE and TIC techniques only 35.85 % and 50.08% of ...
متن کاملDetermination of Alpha 1-Antitrypsin Phenotypes and Genotypes in Iranian Patients
Alpha 1-antitrypsin (AAT) or alpha 1-protease inhibitor (PI) is the principal inhibitor of proteolytic enzyme in serum. Its phenotypic variability has been reported to be associated with liver, lung diseases and rheumatoid arthritis in humans. There is much documentation about high risk phenotypes of PI in some regions of the world, however, there are no reliable reports on these phenotypes and...
متن کاملDefect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia.
The biochemical hallmark of Congenital Disorders of Glycosylation (CDG) including type Ia is a defective N-glycosylation of serum glycoproteins. Hypoglycosylated forms of alpha1-antitrypsin have been detected by Western blot in serum from CDG Ia patients. In contrast we were not able to detect hypoglycosylation in alpha1-antitrypsin synthesized by fibroblasts, keratinocytes, enterocytes, and le...
متن کاملGenomic DNA extraction from small amounts of serum to be used for alpha1-antitrypsin genotype analysis.
If laboratory diagnosis of alpha1-antitrypsin (alpha1-AT) deficiency is usually based on its phenotype identification by isoelectric focusing, alpha1-antiprotease inhibitor (Pi)S and PiZ genotypes can also be determined by deoxyribonucleic acid (DNA)-based methods. Recently, several methods have been described for preparing genomic DNA from serum. The aim of the current study was to determine t...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Annals of the rheumatic diseases
دوره 60 7 شماره
صفحات -
تاریخ انتشار 2001