RESUMO
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 study the effects of Dianxianqing granule on the interleukin(IL-6)content and glial fibrillary acid-ic protein(GFAP),ionized calcium linker molecules 1(Iba-1)expressions in hippocampus tissue of rats with kainate-induced epi-lepsy,and explore its mechanism of preventing and treating epilepsy. METHODS:Rats were randomly divided into sham operation group (distilled water),model group (distilled water),phenytoin group (0.03 g/kg,positive control) and Dianxianqing granule low-dose,medium-dose,high-dose groups(4.74,9.47,18.94 g/kg,calculated by crude drug),20 in each group. Rats were intra-gastrically administrated once a day,for 7 d. After 1 h of last administration,except for sham operation group,rats in other groups received single injection of kainite in hippocampus CA1 of left side to induce the epilepsy model. Behavioral changes and death of rats were observed. After 24 h of modeling,enzyme-linked immunosorbent method was used to detect the IL-6 content in hippocam-pus tissue of rats,Nissl staining was used to count the hippocampus neurons,and immunohistochemistry was used to detect the GFAP,Iba-1 expressions in hippocampus tissue of rats. RESULTS:Compared with sham operation group,rats in model group had obvious epilepsy symptoms after modeling,and parts of rats died;IL-6 content and number of neurons in hippocampus tissue were obviously decreased (P<0.01), while GFAP, Iba-1 expressions were obviously enhanced (P<0.01). Compared with model group,epilepsy symptoms and death in each administration group had improved,while IL-6 content in hippocampus tissue were in-creased to varying degrees,with no statistical significance (P>0.05). The numbers of neurons in phenytoin group,Dianxianqinggranule medium-dose, high-dose groups were obviously in-creased(P<0.01);GFAP expression was obviously decreased (P<0.01). Iba-1 expressions in hippocampus tissue in phenyt-oin group,Dianxianqing granule high-dose group were obvi-ously decreased (P<0.01). CONCLUSIONS:Dianxianqing granule can play the role in preventing and treating epilepsy by inhibiting GFAP,Iba-1 expressions in hippocampus tissue and in-creasing the number of neurons in hippocampus tissue.
RESUMO
OBJECTIVE:To study the effects of Dianxianqing granule on the interleukin(IL-6)content and glial fibrillary acid-ic protein(GFAP),ionized calcium linker molecules 1(Iba-1)expressions in hippocampus tissue of rats with kainate-induced epi-lepsy,and explore its mechanism of preventing and treating epilepsy. METHODS:Rats were randomly divided into sham operation group (distilled water),model group (distilled water),phenytoin group (0.03 g/kg,positive control) and Dianxianqing granule low-dose,medium-dose,high-dose groups(4.74,9.47,18.94 g/kg,calculated by crude drug),20 in each group. Rats were intra-gastrically administrated once a day,for 7 d. After 1 h of last administration,except for sham operation group,rats in other groups received single injection of kainite in hippocampus CA1 of left side to induce the epilepsy model. Behavioral changes and death of rats were observed. After 24 h of modeling,enzyme-linked immunosorbent method was used to detect the IL-6 content in hippocam-pus tissue of rats,Nissl staining was used to count the hippocampus neurons,and immunohistochemistry was used to detect the GFAP,Iba-1 expressions in hippocampus tissue of rats. RESULTS:Compared with sham operation group,rats in model group had obvious epilepsy symptoms after modeling,and parts of rats died;IL-6 content and number of neurons in hippocampus tissue were obviously decreased (P<0.01), while GFAP, Iba-1 expressions were obviously enhanced (P<0.01). Compared with model group,epilepsy symptoms and death in each administration group had improved,while IL-6 content in hippocampus tissue were in-creased to varying degrees,with no statistical significance (P>0.05). The numbers of neurons in phenytoin group,Dianxianqinggranule medium-dose, high-dose groups were obviously in-creased(P<0.01);GFAP expression was obviously decreased (P<0.01). Iba-1 expressions in hippocampus tissue in phenyt-oin group,Dianxianqing granule high-dose group were obvi-ously decreased (P<0.01). CONCLUSIONS:Dianxianqing granule can play the role in preventing and treating epilepsy by inhibiting GFAP,Iba-1 expressions in hippocampus tissue and in-creasing the number of neurons in hippocampus tissue.