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The data of a patient with autosomal dominant optic atrophy (ADOA) and chronic renal insufficiency caused by SSBP1 gene mutation in the Children′s Hospital Affiliated to Zhengzhou University in July 2021 was analyzed retrospectively.Literature was reviewed.The patient was a 10-year-old girl, who visited the hospital due to " growth retardation for the past 3 years and elevated serum creatinine (Scr) for the past 2 years" . On admission, the patient′s height was 130 cm (<10 th percentile of the same sex of healthy age) and her weight was 22 kg (<3 rd precentile of the same sex of healthy age). Lab examination showed that the level of blood urea nitrogen (BUN) was 16.3 mmol/L, Scr was 115.4 μmol/L, and the estimated glomerular filtration rate was 41 mL/(min·1.73 m 2). The patient was complicated with metabolic acidosis and mild anemia.Imaging findings showed small volume of both kidneys, increased background parenchymal enhancement, scattered spot-like hyperechoes and unclear boundary between the cortex and medulla.Additionally, the patient had a history of optic atrophy.Both the father and mother of the patient had no related phenotypes.The genetic test of the patient showed that c. 320G>A (p.R107Q) was a heterozygous missense mutation, which was spontaneous.A total of 5 English papers were retrieved.There were 8 kinds of SSBP1 gene mutations reported, including 7 heterozygous missense mutations [c.320G>A (p.Arg107Gln), c.119G>T (p.Gly40Val), c.331G>C (p.Glu111Gln), c.184A>G (p.Asn62Asp), c.113G>A (p.Arg38Gln), c.422G>A (p.Ser141Asn), c.79G>A (p.Glu27Lys)] and 1 homozygous mutation [c.394A>G (p.Ile132Val)]. Studies have established that almost all patients carrying SSBP1 mutations have manifestations of eye involvement, and that some patients are complicated with progressive deterioration of renal function, sensorineural deafness, growth retardation, and hypothyroidism.It suggests that SSBP1 gene mutation can cause ADOA.For patients with optic atrophy, whether they are complicated with hearing loss and growth retardation, renal morphology and renal function evaluation are recommended.Early genetic examination is helpful for diagnosis and treatment.
RESUMO
Objective:To investigate the efficacy and safety of plasma exchange(PE) in the treatment of autoimmune hemolytic anemia in children.Methods:The data from 8 hospitals in China during November 2014 to April 2017 were collected, and the clinical characteristics of PE in children with AHA were analyzed retrospectively.Results:A total of 21 children with AHA were included in the study, including 17 cases from PICU and 4 cases from pediatric kidney ward, with 11 boys and 10 girls, and the median age was 3.64(0.25, 11.10)years old, and median hospital stay was 12(4, 45)days.There were 15 cases(71.4%) with infection, 2 cases(9.5%)with autoimmune diseases, 4 cases(19.0%) with unknown.Consciousness disturbance occurred in 4 patients before replacement and recovered to normal after PE.The volume of blood decreased in two cases(9.5%) and completely relieved.There were 20 cases of anemia (95.2%), 15 cases were normal after PE, and 5 cases were improved.Jaundice occurred in 18 cases (85.7%), 12 cases were normal after PE, 6 cases were improved.Hepatosplenomegaly was found in 11 cases, 10 cases were normal after PE, 1 case was improved.After PE, the hemoglobin and red blood cell count increased, while the total bilirubin, indirect bilirubin, urea nitrogen and lactate dehydrogenase decreased, there were significant differences between pre-and post-replacement ( P<0.05). Only 1 case had allergic reaction, which was improved after symptomatic treatment, and PE was continued.After PE, 2 cases (9.5%) had complete remission, 16 cases (76.2%) had partial remission and 3 cases (14.3%) had been discharged. Conclusion:PE therapy can obviously improve the clinical symptoms and laboratory indexes of children with AHA who have failed to respond to conservative treatment.It can be used as a treatment measure for children with severe AHA and has a good safety.
RESUMO
Objective:To investigate the efficacy and safety of plasma exchange(PE) in the treatment of autoimmune hemolytic anemia in children.Methods:The data from 8 hospitals in China during November 2014 to April 2017 were collected, and the clinical characteristics of PE in children with AHA were analyzed retrospectively.Results:A total of 21 children with AHA were included in the study, including 17 cases from PICU and 4 cases from pediatric kidney ward, with 11 boys and 10 girls, and the median age was 3.64(0.25, 11.10)years old, and median hospital stay was 12(4, 45)days.There were 15 cases(71.4%) with infection, 2 cases(9.5%)with autoimmune diseases, 4 cases(19.0%) with unknown.Consciousness disturbance occurred in 4 patients before replacement and recovered to normal after PE.The volume of blood decreased in two cases(9.5%) and completely relieved.There were 20 cases of anemia (95.2%), 15 cases were normal after PE, and 5 cases were improved.Jaundice occurred in 18 cases (85.7%), 12 cases were normal after PE, 6 cases were improved.Hepatosplenomegaly was found in 11 cases, 10 cases were normal after PE, 1 case was improved.After PE, the hemoglobin and red blood cell count increased, while the total bilirubin, indirect bilirubin, urea nitrogen and lactate dehydrogenase decreased, there were significant differences between pre-and post-replacement ( P<0.05). Only 1 case had allergic reaction, which was improved after symptomatic treatment, and PE was continued.After PE, 2 cases (9.5%) had complete remission, 16 cases (76.2%) had partial remission and 3 cases (14.3%) had been discharged. Conclusion:PE therapy can obviously improve the clinical symptoms and laboratory indexes of children with AHA who have failed to respond to conservative treatment.It can be used as a treatment measure for children with severe AHA and has a good safety.
RESUMO
Swine influenza A virus belongs to the family of Orthomyxoviridae,which can cause upper respiratory tract infection in swine,avian and human.The influenza A virus that could not be sub-typed was detected from the respiratory tract specimens of patients with influenza-like symptoms in March 2009 in USA and Mexico,followed by identification of a novel swine-origin influenza A (H1N1) virus (S-OIV),which led to an epidemic outbreak in the above two countries and then spread all over the world,causing quite a few deaths.S-OIV differs from other influenza viruses in genotyping,antigenic characteristics,propagating characteristics,pathogenic characteristics and therapies.