Objective To investigate the relationships of hyperuricemia with clinical and Oxford classifications in children with IgA nephropathy.Methods Clinical data of 213 children with IgA nephropathy were retrospective analyzed. According to the levels of blood uric acid, these children were divided into two groups, hyperuricemia group (n?=?51) and normal uric acid group (n?=?162). Differences of clinical index and Oxford classiifcation between the two groups were observed. Results The 24 h urinary protein, level of serum creatinine, glomerular ifltration rate (eGFR) in hyperuricemia group were signiifcantly higher than those in normal group (P all?

Objective To investigate the clinical features of patients with rhabdomyolysis and acute kidney injury (AKI) caused by intense exercise. Methods Data on patients with rhabdomyolysis and AKI due to intense military exercise from January 2002 to December 2017 in a single Chinese nephrology center were retrospectively reviewed. Parameters included clinical manifestations, markers of renal function and muscle damage, treatment and prognosis. Results Twenty-two male servicemen with AKI caused by rhabdomyolysis were included. They took part in the military running training before onset. 95.5％(21/22) took part in 5-kilometer race, of which cross-country was 86.4％(19 cases) and bare-handed was 9.1％(2 cases). Most cases occurred in summer, in which 72.7％(16 cases) took part in 5-kilometer cross-country race. The levels of serum creatinine (Scr), blood urea nitrogen (BUN), uric acid (UA) and creatine kinase (CK) significantly increased in patients, with 9.1％(2 cases) reaching AKI stage 1, 31.8％ (7 cases) reaching AKI stage 2, and 59.1％ (13 cases) reaching AKI stage 3, respectively. Serum CK levels were positively correlated with AKI stage (r=0.453, P<0.05), Scr (r=0.494, P<0.05) and BUN (r=0.545, P<0.01), while negatively correlated with UA (r=-0.487, P<0.05). Serum LDH levels were positively correlated only with age (r=0.533, P<0.05). Serum UA presented inverse correlations with BUN (r=- 0.513, P<0.05), K+ (r=- 0.642, P<0.01) and CK (r=- 0.487, P<0.05), and positive correlation with age (r=0.431, P<0.05). In particular, duration from onset of disease had a stronger positive association with BUN (r=0.907, P<0.01) and Scr (r=0.690, P<0.01). Of these patients with AKI, 21 cases(95.5％) reached complete recovery of kidney function and 1 case (4.5％) changed to chronic renal failure within 3 months after comprehensive treatments , including 8 cases(36.4％) who received appropriate continuous venovenous hemofiltration. Conclusions Intense exercise in summer is likely to cause rhabdomyolysis and AKI. Early diagnosis and comprehensive treatment including appropriate blood purification are crucial for a successful treatment. Our findings also emphasize the importance of age on muscle injury and the monitoring of electrolysts, markers of muscle damage and renal function for prevention of rhabdomyolysis and its related complications.

Objective:To carry out preimplantation genetic testing (PGT) for a Chinese pedigree affected with Rett syndrome (RTT).Methods:A pedigree affected with RTT who had presented at the First Hospital of Jilin University on June 4, 2021 was selected as the study subject. Variant of the MECP2 gene was analyzed by next generation sequencing (NGS) and Sanger sequencing. Direct sequencing was also used to determine the carrier status for the c. 925C>T variant of the MECP2 gene in the blastocysts, and Sanger sequencing was used to validate the results. The MECP2 gene and 168 effective single nucleotide polymorphism (SNP) loci within 2 Mb ranges up- and downstream of the gene were used to construct a haplotype for analyzing the variant site in the embryos, and embryos without the variant were subjected to the analysis for chromosomal aneuploidies. Results:PGT analysis revealed that five out of seven blastocysts did not harbor the pathogenic variant. The results of aneuploidy analysis indicated that two out of five blastocysts without the variant were euploid. Following genetic counselling, the couple had opted to transplant the optimal blastocyst. Following clinical pregnancy, prenatal diagnosis showed that the fetus has a normal chromosomal karyotype, and the c. 925C>T variant was not detected in the amniotic fluid sample. A healthy girl was born by Cesarean section at full term.Conclusion:NGS can attain efficient PGT detection and reduce the risk of disease recurrence in families affected with RTT.