Objectives To analyze the labeling of drug items for patients with renal insufficiency in our hospital so as to provide reference for rational use of drugs. Methods The drug instructions used in No.1 Hospital of Jilin University in 2017 were collected. According to the classification of pharmacology, the instructions of the top 9 drugs system were selected. The annotation of drug items for patients with renal insufficiency in these pharmaceutical instructions was analyzed. Results A total of 812 drug instructions were included, in which 72.17% did not mark drug instruction for renal insufficiency patients. According to the administration system, the highest unlabeled rate were digestive system drugs; according to the method of administration, the highest unlabeled rate was external preparation of drugs, accounting for 83.33%; according to production enterprises, the highest unlabeled rate were domestic drugs, accounting for 75.55%. There were only 23.40% of the tagging items having guidance of medication, and some with a certain degree of confusion in the annotation. Conclusion The unlabelling situation of drug instructions for renal insufficiency patients is very serious. It should arouse the attention of pharmaceutical manufacturers and the pharmaceutical supervisory department is suggested to strengthen the supervision of drug instructions and regulate the contents of drug labeling in drug instructions, so as to guide the rational use of drugs in clinical practice.
ObjectiveTo analyze and identify the pathogenic mutation that caused a case of child’s renal coloboma syndrome (RCS).MethodsA child with congenital cataract in the right eye and optic disc defect in the left eye and his parents with normal phenotype were included in the study. The blood of the child and his parents were captured to extract DNA and make molecular test. The possible variants were screened through NGS sequencing using the ophthalmology gene panel on illumina NextSeq 500 platform, and proved the selected PAX2 mutation by Sanger sequencing. Pathogenicity report was retrieved through PubMed and related database. Pathogenicity analysis of the candidate mutated site has careful consideration of the patient’s clinical presentations and sequencing result base on Standards and Guidelines for the Interpretation of Sequence Variants revised by ACMG. According to the results of gene diagnosis, the child was executed related clinical examinations on kidney.ResultsThe sequence result showed that a heterozygous mutation in PAX2, c.70dupG (p.V26Gfs*28), which lead to truncated protein product that terminated after 28 amino acids of the mutated site. Both of his normal parents were not carriers of the heterozygous mutation. Sanger sequencing results of the child and his parents were consistent with the NGS sequencing. The autosomal dominant disease phenotype was inferred to be caused by the heterozygous mutation of c.70dupG (p.V26Gfs*28) of PAX2 gene. Renal color Doppler ultrasound results showed the child with small renal cysts on the left and mildly separated collecting system. Renal function tests showed the child with α1 microglobulin index increased.ConclusionThe heterozygous mutation c.70dupG (p.V26Gfs*28) in PAX2 is the genetic pathogenic cause for the patient with RCS.