ABSTRACT
The human homologue of mouse progressive ankylosis protein(ANKH)is an inorganic pyrophosphate transport regulator,which regulates tissue mineralization by controlling the level of inorganic pyrophosphate.It plays an important role in the pathogenesis and development of bone and joint diseases,such as ankylosing spondylitis,craniometaphyseal dysplasia,and articular cartilage calcification.This review summarizes the progress of research on ANKH and the above-mentioned diseases.
Subject(s)
Humans , Mice , Ankylosis , Hyperostosis , Hypertelorism , Joint Diseases , MutationABSTRACT
A 93-year-old man with a history of calcium pyrophosphate deposition disease (CPPD) in the right shoulder and wrist had severe pain in his right lower limb in the absence of trauma. He was transported by ambulance to our hospital. He was febrile (38℃) and swelling of the inguinal region was noted on physical examination. Laboratory examination showed elevated C-reactive protein (19.1 mg/dL, normal range ＜ 0.3 mg/dL) and white blood cell count (9600/μl, normal range ＜ 9000/μL). X-ray showed calcifications near the hip bilaterally, computed tomography showed distension of the iliopectineal bursa, and magnetic resonance imaging showed a cystic lesion of the iliopectineal bursa. Aspiration was performed under ultrasound guidance. Fluid analysis under an optical microscope revealed calcium pyrophosphate crystals. Bacterial examination was negative. Iliopectineal bursitis associated with CPPD was diagnosed, and he was treated conservatively with NSAIDs. To our knowledge, only 5 cases of iliopectineal bursitis associated with CPPD have been reported in Japan, and here we present the details of this rare case.
ABSTRACT
Objective To investigate the clinical and imaging features of patients with calcium pyrophosphate deposition (CPPD).Methods The clinical data and X-rays material of knee joint of 20 patients with CPPD were retrospectively analyzed.Pearson/Spearman's correlations analysis was used for statistical analysis with software version 15.0.Results The 20 patients with CPPD had demonstrated that the typical accumulation of calcium,which accounted for about 1.5％o(20/13 536) among patients over 55 years old who had knees X-ray at the same period in Chaoyang Hospital.Female patients of CPPD was 80％ (16/20).Seventeen patients completed follow-up visits.The age of onset for CPPD ranged from 44 to 85 years old,the percentage of CPPD patients over 70 years old was 71％(12/17).Among the 17 cases of followed,14 cases (82％) were patients with paroxysmal arthritis with the initial site of knee joint (79％) and ankle joint (21％).Most patients suffered from moderate to severe pain,while some might have local congestion and increased skin temperature.Five patients had more than two different joints attacked by arthritis.The distribution of the affected areas was knee,ankle,hip,elbow,wrist and metacarpophalangeal joints.The median number of attack was 1.5 times a year,and the median duration of attack was 8.5 days.Among the 14 patients,Six cases of them had no recurrence after treatment,but six cases had recurrent attacks within a year.The imaging of lateral articular facet showed that calcium deposit was extended and thickness of calcification was increased.Plus osteophyte formation stage was 100％ with an average of 3.0±1.6 and 85％ sclerosis of articular facet.The rate of attacks of arthritis had a positive correlation with calcium deposition range of lateral articular facet (r=0.663,P=0.010) and a negative correlation with sclerosis of articular facet (r=-0.548,P=0.042).Conclusion Old patients with paroxysmal joint pain,patients with knee joint or other big joints as the initial joints involved,patients with long duration disease,patients who had more than two joints at attack and patients with calcium deposition in imaging,should be suspected for CPPD clinically.Moreover,patients with a wide range of calcium deposition are high likely to suffer from recurrent arthritis attack.