2011年 · 第91卷第10期

Gaucher disease is one of the most common lysosomal storage diseases and is an autosomal recessive disease. Due to gene mutation in this disease, the activity of glucocerebrosidase (also known as acid β-glucosidase) in the body is lacking, resulting in its substrate glucocerebroside (glucocerebroside) being stored in the lysosomes of macrophages in the liver, spleen, bones, lungs and even the brain, forming typical storage cells, namely Gaucher cells, resulting in diseases in affected tissues and organs. The clinical manifestation is multi-organ involvement, which is progressive and can be life-threatening. Glucocerebrosidase gene is located in chromosome 1q21. It has been confirmed that there are about 300 mutations of this enzyme in patients with Gaucher disease. The mutation type and proportion are ethnically different, and the relationship between its genotype and clinical phenotype is still uncertain. The incidence of Gaucher's disease varies greatly between races^[1,2,3]It is very rare in China, and there is no statistical data at present. In order to standardize the diagnosis and treatment of Gaucher's disease and promote the academic development of this disease field, the Lysosomal Storage Disease Medical Collaboration Group and interdisciplinary experts jointly compiled this expert consensus on the diagnosis and treatment of Gaucher's disease for clinicians' reference.

Blood glucose monitoring is an important part of diabetes management, and its results are helpful to evaluate the degree of glucose metabolism disorder in diabetic patients, formulate reasonable hypoglycemic regimen, reflect the effect of hypoglycemic treatment and guide the adjustment of treatment regimen. With the progress of science and technology, blood glucose monitoring technology has also developed rapidly, which makes blood glucose monitoring more and more accurate, comprehensive, convenient and less painful. At present, clinical blood glucose monitoring methods include self-blood glucose monitoring (SMBG) by blood glucose meter, dynamic blood glucose monitoring (CGM) for 3 consecutive days, glycosylated serum albumin (GA) reflecting the mean blood glucose level of 2 to 3 weeks, and glycosylated hemoglobin (HbA1c) reflecting the mean blood glucose level of 2 to 3 months. Among them, patients undergoing SMBG is the basic form of blood glucose monitoring, HbA1c is the gold standard reflecting the long-term blood glucose control level, and CGM and GA are effective supplements to the above monitoring methods.

There are many causes and manifestations of dementia. For different clinical or research purposes, there are many classification and diagnosis methods for dementia. How to choose in clinical practice is an important issue for clinicians. Based on the literature at home and abroad in recent years, and combined with the actual situation in China, this writing group compiled the guidelines of dementia classification and diagnosis criteria for reference. The literature evidence level and recommendation strength criteria in this guide can be found in the article "Chinese Guidelines for Dementia and Cognitive Impairment (I): Dementia Diagnosis Process" in the series published in this journal (see pages 577-581 of this journal, Volume 91, Issue 9, 2011).