Objective To investigate the diagnostic value of anti-cyclic citrullinated peptides ( CCP ) antibodies combined rheumatoid factors (RF) on elderly patients with rheumatoid arthritis.Methods From January 2012 to December 2014, 29 cases of elder patients in our hospital with rheumatoid arthritis (elder RA group, age >60 year), 47 cases of elderly health control group (elder RA group, age≥60), and 48 cases of elder patients without rheumatoid arthritis (non-elder RA group, age<60 year) were selected.The anti-CCP antibodies and rheumatoid factor (RF) levels of three groups were detected, and the significance of anti-CCP antibody combined RF on the diagnosis of elderly rheumatoid arthritis was analyzed.Results Diagnostic positive rate of anti-CCP antibodies +RF was significantly higher than that of anti-CCP antibodies, and the difference was significant (χ2 =7.632, P =0.006).Diagnostic positive rate of anti-CCP antibodies +RF was higher than that of RF, but the difference was not statistically significant (χ2 =3.107, P=0.078).The diagnostic positive rate of anti-CCP antibodies, RF, and anti-CCP antibodies +RF for diagnosis of elderly rheumatoid arthritis had no statistically difference with that of non-elderly RA group.The sensitivity and negative predictive value of anti-CCP antibodies +RF was higher than that of only anti-CCP antibodies and RF.The area under the ROC curve of detecting anti-CCP +RF was 0.786, which was higher than that of anti-CCP antibodies (0.699) and RF (0.663), indicated that the reliability of anti-CCP antibodies +RF was higher than that of anti-CCP antibodies and RF.Conclusion The anti-CCP antibodies and RF can diagnose elderly rheumatoid arthritis, and anti-CCP antibodies combined RF has more clinical significance.

Objective To analyze the clinical characteristics and mutation of SLC26A3 gene of a patient with congenital chloride diarrhea in order to deepen the understanding of the disease.Methods The clinical data of the patient who was admitted in Affiliated Hospital of Capital Pediatric Institute in June 2014 were collected.Venous blood of the proband and his parents (2 mL for each) had been extracted for genomic DNA isolation.The 21 exons of SLC26A3 gene were amplified with polymerase chain reaction and screened for mutations by sequencing.Results The main clinical features of the patient included polyhydramnios,preterm,normal birth weight,watery diarrhea,low weight and severe electrolyte disturbances with hypochloremia,hypokalemia,hyponatremia and metabolic alkalosis.Renin angiotensin and aldosterone were high.His urine chloride concentration was low and fecal chloride concentration was high (＞ 90mmol/L).After oral salt substitution therapy with KCl and NaCl [3 mmol/(kg · d),4 mmol/(kg · d)],the electrolyte was better,alkalosis was alleviated,and growth and development were improved.The gene analysis revealed that the patient carried nt1631T ＞ A homozygous mutation on exon 15 which lead to Ile544Asn mutation in the predicted SLC26A3 transmembrane protein sequence,which was considered to be responsible for the functional abnormality of the Cl-/HCO3-protein.His parents were carriers of SLC26A3 gene and their clinical phenotype was normal.Conclusions Congenital chloride diarrhea is a rare autosomal recessive disorder and easily misdiagnosed.The patient of early postnatal diarrhea with persistent hypochloremia,hypokalemia,hyponatremia and metabolic alkalosis should be thought about this disease.Genetic analysis can help make the diagnosis.The prognosis is good if a patient has an early diagnosis and appropriate management.

Objective Congenital nephrogenic diabetes insipidus (CNDI) is a rare disease, the aim of this article is to help better understanding of this disease. Methods The clinical features, genetic analysis and treatments of two siblings with CNDI were retrospectively analyzed, and related literatures were reviewed. Results Both brothers had polydispia, polyuria and low concentrate urine continuously, and they both had a mutation in AQP 2 conifrmmed with Sanger sequencing. This novel frame shift mutation caused arginine of 254 to histidine, and prolonged AQP 2 protein. Conclusions Gene analysis can help diagnosis of CNDI. Amiloride is useful option for treatment.