原发性疾病最常见(全世界高达 70% 的人口患病,但并非都存在乳糖不耐受的症状),[1]Matthews SB, Waud JP, Roberts AG, et al. Systemic lactose intolerance: a new perspective on an old problem. Postgrad Med J. 2005 Mar;81(953):167-73.https://pmj.bmj.com/content/81/953/167.longhttp://www.ncbi.nlm.nih.gov/pubmed/15749792?tool=bestpractice.com[4]Kretchmer N. Lactose and lactase - a historical perspective. Gastroenterology. 1971 Dec;61(6):805-13.http://www.ncbi.nlm.nih.gov/pubmed/4947662?tool=bestpractice.com[5]Kretchmer N. On the homology between human development and pediatrics. Pediatr Res. 1968 Jul;2(4):283-6.http://www.ncbi.nlm.nih.gov/pubmed/5669665?tool=bestpractice.com[6]Cavalli-Sforza LL. Analytic review: some current problems of human population genetics. Am J Hum Genet. 1973 Jan;25(1):82-104.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1762215/pdf/ajhg00446-0084.pdfhttp://www.ncbi.nlm.nih.gov/pubmed/4567614?tool=bestpractice.com[7]Hertzler SR, Savaiano DA. Colonic adaptation to daily lactose feeding in lactose maldigesters reduces lactose intolerance. Am J Clin Nutr. 1996 Aug;64(2):232-6.http://www.ncbi.nlm.nih.gov/pubmed/8694025?tool=bestpractice.com 而先天性疾病极其罕见(迄今为止,在世界范围内大约仅报告了 40 例)。[3]Lomer ME, Parkes GC, Sanderson JD. Lactose intolerance in clinical practice - myths and realities. Aliment Pharmacol Ther. 2008 Jan 15;27(2):93-103.http://www.ncbi.nlm.nih.gov/pubmed/17956597?tool=bestpractice.com[8]Swallow DM. Genetics of lactase persistence and lactose intolerance. Annu Rev Genet. 2003;37:197-219.http://www.ncbi.nlm.nih.gov/pubmed/14616060?tool=bestpractice.com
在美国,相比白种人,原发性疾病在非洲裔美国人、美洲印第安人、西班牙裔/拉丁裔和亚裔美国人中更为常见。[2]Heyman MB; American Academy of Pediatrics, Committee on Nutrition. Lactose intolerance in infants, children, and adolescents. Pediatrics. 2006 Sep;118(3):1279-86.http://pediatrics.aappublications.org/content/118/3/1279.longhttp://www.ncbi.nlm.nih.gov/pubmed/16951027?tool=bestpractice.com[9]Scrimshaw NS, Murray EB. The acceptability of milk and milk products in populations with a high prevalence of lactose intolerance. Am J Clin Nutr. 1988 Oct;48(4 Suppl):1079-159.http://www.ncbi.nlm.nih.gov/pubmed/3140651?tool=bestpractice.com[10]Paige DM, Bayless TM, Mellitis ED, et al. Lactose intolerance in preschool black children. Am J Clin Nutr. 1977 Jul;30(7):1018-22.http://www.ncbi.nlm.nih.gov/pubmed/577654?tool=bestpractice.com[11]Sahi T. Genetics and epidemiology of adult-type hypolactasia. Scand J Gastroenterol Suppl. 1994;202:7-20.http://www.ncbi.nlm.nih.gov/pubmed/8042019?tool=bestpractice.com 北美人、北欧白种人和澳大利亚人的患病率最低,为2%~15%。[2]Heyman MB; American Academy of Pediatrics, Committee on Nutrition. Lactose intolerance in infants, children, and adolescents. Pediatrics. 2006 Sep;118(3):1279-86.http://pediatrics.aappublications.org/content/118/3/1279.longhttp://www.ncbi.nlm.nih.gov/pubmed/16951027?tool=bestpractice.com[9]Scrimshaw NS, Murray EB. The acceptability of milk and milk products in populations with a high prevalence of lactose intolerance. Am J Clin Nutr. 1988 Oct;48(4 Suppl):1079-159.http://www.ncbi.nlm.nih.gov/pubmed/3140651?tool=bestpractice.com 相比之下,在南美人中乳糖酶缺乏的患病率是 50%-80%;非洲人和德系犹太人为 60%-80%;美洲印第安人和某些东亚人的患病率则几乎是 100%。[2]Heyman MB; American Academy of Pediatrics, Committee on Nutrition. Lactose intolerance in infants, children, and adolescents. Pediatrics. 2006 Sep;118(3):1279-86.http://pediatrics.aappublications.org/content/118/3/1279.longhttp://www.ncbi.nlm.nih.gov/pubmed/16951027?tool=bestpractice.com[10]Paige DM, Bayless TM, Mellitis ED, et al. Lactose intolerance in preschool black children. Am J Clin Nutr. 1977 Jul;30(7):1018-22.http://www.ncbi.nlm.nih.gov/pubmed/577654?tool=bestpractice.com[11]Sahi T. Genetics and epidemiology of adult-type hypolactasia. Scand J Gastroenterol Suppl. 1994;202:7-20.http://www.ncbi.nlm.nih.gov/pubmed/8042019?tool=bestpractice.com
乳糖酶表达的年龄相关性下降通常在童年期就完成了,但也有报道可于后期(青少年期)发生,特别是在白种人中。[11]Sahi T. Genetics and epidemiology of adult-type hypolactasia. Scand J Gastroenterol Suppl. 1994;202:7-20.http://www.ncbi.nlm.nih.gov/pubmed/8042019?tool=bestpractice.com[12]Sahi T, Launiala K, Laitinen H. Hypolactasia in a fixed cohort of young Finnish adults. A follow-up study. Scand J Gastroenterol. 1983 Oct;18(7):865-70.http://www.ncbi.nlm.nih.gov/pubmed/6689563?tool=bestpractice.com 乳糖酶活性丧失的最终水平和时间进程在不同种族差异较大。[1]Matthews SB, Waud JP, Roberts AG, et al. Systemic lactose intolerance: a new perspective on an old problem. Postgrad Med J. 2005 Mar;81(953):167-73.https://pmj.bmj.com/content/81/953/167.longhttp://www.ncbi.nlm.nih.gov/pubmed/15749792?tool=bestpractice.com[11]Sahi T. Genetics and epidemiology of adult-type hypolactasia. Scand J Gastroenterol Suppl. 1994;202:7-20.http://www.ncbi.nlm.nih.gov/pubmed/8042019?tool=bestpractice.com 中国人和日本人在断奶后 3-4 年内乳糖酶活性丧失 80%-90%;犹太人(所有人群)和亚洲人在断奶后几年内丧失 60%-70%;北欧和北美白种人乳糖酶活性达到最低水平可能需要 18-20 年。[1]Matthews SB, Waud JP, Roberts AG, et al. Systemic lactose intolerance: a new perspective on an old problem. Postgrad Med J. 2005 Mar;81(953):167-73.https://pmj.bmj.com/content/81/953/167.longhttp://www.ncbi.nlm.nih.gov/pubmed/15749792?tool=bestpractice.com[3]Lomer ME, Parkes GC, Sanderson JD. Lactose intolerance in clinical practice - myths and realities. Aliment Pharmacol Ther. 2008 Jan 15;27(2):93-103.http://www.ncbi.nlm.nih.gov/pubmed/17956597?tool=bestpractice.com 混血人种被观察到乳糖酶不持久的患病率较低,而土著人种则有较高的患病率。[13]Johnson JD. The regional and ethnic distribution of lactose malabsorption. Genetic and adaptive hypothesis. Clinical and nutritional implications. Baltimore, MD: Johns Hopkins University Press; 1981:11-22.
在原发性疾病中典型起病是隐匿的和渐进的,且大部分人是在青春期和成年期首次感觉到不耐受症状。[2]Heyman MB; American Academy of Pediatrics, Committee on Nutrition. Lactose intolerance in infants, children, and adolescents. Pediatrics. 2006 Sep;118(3):1279-86.http://pediatrics.aappublications.org/content/118/3/1279.longhttp://www.ncbi.nlm.nih.gov/pubmed/16951027?tool=bestpractice.com[3]Lomer ME, Parkes GC, Sanderson JD. Lactose intolerance in clinical practice - myths and realities. Aliment Pharmacol Ther. 2008 Jan 15;27(2):93-103.http://www.ncbi.nlm.nih.gov/pubmed/17956597?tool=bestpractice.com 与北欧、北美和澳大利亚白种人相比,美洲原住民、非洲裔美国人、亚裔美国人和西班牙裔/拉丁裔会更早出现症状。[2]Heyman MB; American Academy of Pediatrics, Committee on Nutrition. Lactose intolerance in infants, children, and adolescents. Pediatrics. 2006 Sep;118(3):1279-86.http://pediatrics.aappublications.org/content/118/3/1279.longhttp://www.ncbi.nlm.nih.gov/pubmed/16951027?tool=bestpractice.com[3]Lomer ME, Parkes GC, Sanderson JD. Lactose intolerance in clinical practice - myths and realities. Aliment Pharmacol Ther. 2008 Jan 15;27(2):93-103.http://www.ncbi.nlm.nih.gov/pubmed/17956597?tool=bestpractice.com[10]Paige DM, Bayless TM, Mellitis ED, et al. Lactose intolerance in preschool black children. Am J Clin Nutr. 1977 Jul;30(7):1018-22.http://www.ncbi.nlm.nih.gov/pubmed/577654?tool=bestpractice.com[11]Sahi T. Genetics and epidemiology of adult-type hypolactasia. Scand J Gastroenterol Suppl. 1994;202:7-20.http://www.ncbi.nlm.nih.gov/pubmed/8042019?tool=bestpractice.com 继发性疾病在儿童中更常见,特别是在发展中国家,且感染是常见的原因。[14]Srinivasan R, Minocha A. When to suspect lactose intolerance. Symptomatic, ethnic, and laboratory clues. Postgrad Med. 1998 Sep;104(3):109-11,115-6,122-3.http://www.ncbi.nlm.nih.gov/pubmed/9742907?tool=bestpractice.com
不同性别同等受影响。