Liddle syndrome: case report and literature review / 中华全科医师杂志

The clinical data and the genetic study results of a patient with Liddle syndrome were reported.The genomic DNA of peripheral blood mononuclear cells was extracted and the mutation sites of all the exons in 36 genes related to hypokalemia were screened by high-throughput sequencing.Genetic validation of patients and their parents was performed by direct sequencing.The patient presented with severe hypokalemia,low aldosterone and hypertension.The results of gene sequencing showed that the SCNN1B gene exon 13 584 codon 1751C-T,and the corresponding encoded amino acid changed from alanine to valine (A-V).Eleven families and 33 cases of Liddle syndrome diagnosed by genetic analysis were reported in Chinese literature from 1998 to June 2018.The literature review showed that all patients had hypertension,87％ (28/32) had hypokalemia and 85％ (23/27) had low aldosterone.The onset age of 21 patients was＜20 year,among whom cerebral stroke occurred in 3 patients.The normal blood pressure can be achieved by low-salt diet and administration of amiloride or triamterene.The most common mutations were missense mutations (7/11).Liddle syndrome is a controllable and treatable disease,early detection,diagnosis and treatment can avoid serious complications.

Lesch-Nyhan syndrome in a Chinese family with mutation in the HGPRT gene / 中国生化药物杂志

Lesch-Nyhan syndrome(LNS) is a congenital X-linked recessive inherited disorder caused by mutations in the hypoxanthine guanine phosphoribosyl transferase (HPRT) gene.A deficiency of the HPRT enzyme is responsible for the disease.The main clinical manifestation includes hyperuricemia, juvenile-onset gouty arthritis and neurological developmental disorders.Studies have reported there are more than 400 HPRT gene mutation sites, but the incidence of LNS in the Chinese population is extremely low.Here we report a 16-year-old male patient who suffered neurological dysfunction at an early age and gouty arthritis in his youth.DNA of patient and his family members were extracted from peripheral blood lymphocytes.The coding region and the intron-exon boundaries of HPRT gene were sequenced by standard methods.We found a mutation in exon 3 of the HPRT gene of the patient and his mother (Exon3:c.143G>A), which resulted in an arginine to histidine (p.R48H) substitution in the encoded protein.No activity of the enzyme HPRT was detected in the erythrocytes.The same mutation was reported in several European families, but was found in Chinese family for the first time.Clinicians in China have poor experience in diagnosing LNS case, due to the low incidence in China.Therefore LNS screening for infants or adolescents with hyperuricemia, gouty arthritis and neurological dysfunction should be performed.

A novel mutation, IVS2-2AgG, associated with acute intermittent porphyria in a Chinese family.

Porphyria is a group of disorders caused by the accumulation of porphyrin and porphyrin precursors due to the abnormalities in certain enzymes that normally participate in the production of haem. We report a case of a woman with severe menstruation-related abdominal pain, hyponatraemia, and psychiatric symptoms. Excessive porphobilinogen was found in her urine. A new mutation in intron 2 (IVS2-2Ag→G), which had never previously been reported in patients with porphyria or in healthy Chinese population, was identified in the heterozygous state in the patient and her mother.

The Relationship Between Hyperferritinemia And Early Metabolism Disturbance Of Sugar And Lipid / 医学研究杂志

Objective To study the relationship between hyperferritinemia and early metabolism disturbance of sugar and Lipid.Methods 382 people in health examination from Hangzhou First People's Hospital were divided into hyperferritin group(A group)and hypoferritin group(B group)according to the level of ferritin.Blood fat,fasting blood glucose(FBG),uric acid(UA),hematoglobin(Hb),red blood cell count(RBC),hematocrit(HCT),mean corpuscular-hemoglobin concentration(MCHC)were determined,and adiposis hepatica was judged by ultrasonic inspection,then we analyzed by meams of statistics.Results The result showed that TG,LDL,HDL,ApoA1,ApoB,FBG,UA,Hb,RBC,HCT,MCHC had significant deviation between two groups.Ferritin was positive correlated with TG,TC,LDL,ApoB,Hb,RBC,HCT,and negative correlated with HDL,ApoA1.The incidence of adiposis hepatica in A group was obviously higher than B group.Conclusions Probably,ferritin was one of the markers of early metabolism disturbance of sugar and Lipid.