ABSTRACT
Nonketotic hyperglycinemia(NKH), also known as glycine encephalopathy, is a rare and life-threatening autosomal recessive disease.Due to the insufficient activity of the glycine cleavage enzyme system(GCS), glycine can not be degraded and accumulates in the body.It leads to progressive damage to the nervous system.The clinical manifestations of the disease vary.Based on ultimate outcome, NKH is categorized into severe NKH and attenuated NKH.It is characterized by increased glycine level in cerebrospinal, and further confirmatory tests are molecular genetic testing and enzymatic testing.So far, no causal treatment of NKH has been discovered and the overall prognosis is still poor.The therapy is based on sodium benzoate and N-methyl-D-aspartate(NMDA)receptor site antagonists.This article reviews the progress of NKH, in order to help clinicians comprehensively identify NKH and take proactive measures to get the best results.
ABSTRACT
Nonketotic hyperglycinemia (NKH) is a rare congenital metabolic disorder with low diagnostic rate. This article reported a case of NKH caused by AMT gene mutation. The child started with suspected neonatal sepsis, and then the condition deteriorated rapidly, including apnea, hiccup, coma, convulsion, etc. Blood glucose, ketone body, blood gas analysis of electrolytes, blood ammonia and so on were generally normal. Blood and urine screening results showed that glycine was slightly higher, and the ratio of cerebrospinal fluid to serum glycine concentration increased. Electroencephalogram showed outburst suppression. High total exome sequencing results showed that the maternal exon 3 c.664C>T(p.Arg222Cys) of AMT gene was pathogenic, and the paternal exon 3 c.793C>T(p.Arg265Cys) was suspected to be pathogenic, which was an autosomal recessive genetic disease with complex heterozygosis. The clinical diagnosis and treatment of this child and the characteristics of gene mutation are summarized.
ABSTRACT
Objective This study was to evaluate the relative applicability of serum cystatin C(Cys C)-based formulas and serum creatinine-based formulas for renal glomerular filtration rate(GFR) of Chinese children with chronic kidney disease(CKD).Methods Six hundred and nine Chinese CKD patients of less than 18 years old were enrolled from January 2011 to October 2016 in Shengjing Hospital of China Medical University.The value for estimated GFR (eGFR) was derived from using the 11 formulas,and 99mTc-DTPA renal dynamic imaging was the golden standard of standard GFR(sGFR).SPSS 22.0 statistical software was used to compare the accuracy of each assessment formula and the correlation between GFR markers(Cys C, β2-MG) and sGFR.Results A total of 609 children were enrolled,including 332 patients in CKD stage 1 (211 males and 121 females),165 patients in CKD stage 2(99 males and 66 females),70 patients in CKD stage 3(43 males and 27 females),22 patients in CKD stage 4(13 males and 9 females),and 20 patients in CKD stage 5(16 males and 4 females).All of the formulas either overestimate or underestimate GFR in chil-dren with CKD. In contrast with other formulas,CKD-EPI formula and Filler formula performed better regardless of gender and age difference.Serum β2-MG and serum Cys C all showed a negative relationship with sGFR(respectively r= -0.478 and r= -0.585,P<0.01).Conclusion CKD-EPI formula and Filler formula provide the better approximation to sGFR than other formulas in Chinese children with CKD.Howev-er,we need to try our best to enroll more patients to develop a more accurate GFR estimation formula in Chinese children.
ABSTRACT
Chronic kidney disease in children(CKD) is a serious chronic progressive disease that threatens children's growth and development.CKD is often asymptomatic until severe renal insufficiency develop,some of them develop into end-stage renal disease(ESRD),which needs renal replacement therapy.In this paper,etiology,pathogenesis,diagnosis and treatment of CKD are reviewed in order to make people know more about CKD,and take measures to reduce the incidence of ESRD.