本文選題：家系 + 遲發(fā)性��； 參考：《寧夏醫(yī)科大學(xué)》2011年碩士論文

【摘要】：目的針對寧夏地區(qū)首發(fā)回族遲發(fā)性皮膚卟啉病(porphyria cutanea tarda, PCT)家系進(jìn)行調(diào)查研究。遲發(fā)性皮膚卟啉病是卟啉癥中最常見的一型,發(fā)病率1.4～3.5∶100 000。臨床特點(diǎn)為慢性皮膚損害,起病緩慢,癥狀輕重不一。本研究的目的是以明確寧夏地區(qū)首個(gè)回族遲發(fā)性皮膚卟啉病家系的診斷及遺傳特點(diǎn)。方法對這一家系所有成員進(jìn)行臨床病例資料收集,結(jié)合皮膚�？魄闆r、皮損組織病理、PAS染色及Wood燈,明確診斷,繪制家系圖。結(jié)果三代13人均為回族,對本家系2個(gè)疑似病例(均為女性)及6個(gè)無臨床癥狀家庭成員進(jìn)行了尿卟啉篩選實(shí)驗(yàn),2個(gè)疑似病例尿卟啉實(shí)驗(yàn)(Wood燈下呈亮粉色熒光)均為陽性。再結(jié)合先證者皮膚�？魄闆r、皮損組織病理、PAS染色陽性,臨床確診遲發(fā)性皮膚卟啉病。結(jié)論遲發(fā)性皮膚卟啉病是一種較為少見的代謝性疾病,一般將PCT分作散發(fā)性和家族性兩型。而目前國內(nèi)家系報(bào)道1例(河北醫(yī)科大學(xué)代謝內(nèi)分泌研究所,彭學(xué)軍,毛季萍等;當(dāng)代醫(yī)師雜志1996年)。寧夏回族遲發(fā)型卟啉病一家系為我區(qū)首例家族型遲發(fā)型卟啉病報(bào)道,發(fā)病者4人,均為女性,回族。
[Abstract]:Objective to investigate the pedigree of Porphyria cutanea tarda in the first episode of Hui nationality in Ningxia. Tardive dermatoporphyria is the most common type of porphyria, with an incidence of 1.4 to 3.5: 100, 000. Clinical features are chronic skin damage, slow onset and different severity of symptoms. The purpose of this study was to identify the diagnosis and genetic characteristics of the first Hui delayed dermatoporphyrin family in Ningxia. Methods the clinical data of all the members of this family were collected, combined with the condition of skin specialty, the pathological pas staining and Wood lamp of the lesions, the diagnosis was made and the pedigree map was drawn. Results 13 people of three generations were all of Hui nationality. Two suspected cases (all female) and six family members without clinical symptoms were tested by urine porphyrin screening, and the two suspected cases were all positive under the bright pink fluorescence under the lamp of urine porphyrin. Combined with the skin specialty of the proband, the lesions were positive for pas staining and were clinically diagnosed as tardy dermatoporphyria. Conclusion delayed dermatoporphyria is a rare metabolic disease. PCT is classified as sporadic and familial. At present, one case was reported in Chinese family (Institute of Metabolism and Endocrinology, Hebei Medical University, Peng Xuejun, Mao Jiping, et al.). A family of late type porphyria in Ningxia Hui nationality was reported as the first family type of porphyria in our district. The disease occurred in 4 cases, all of them were female and Hui nationality.
【學(xué)位授予單位】：寧夏醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2011
【分類號(hào)】：R758.5

【參考文獻(xiàn)】

相關(guān)期刊論文 前10條

1 馮崇環(huán);腹部征群血卟啉病10例治驗(yàn)[J];安徽中醫(yī)臨床雜志;1997年04期

2 韓冰,李琦,武永吉;急性間歇性卟啉病的臨床分析[J];北京醫(yī)學(xué);1998年05期

3 楊秀琴，陳志聰;24例產(chǎn)后腹型血卟啉病發(fā)作臨床分析[J];福建中醫(yī)藥;1995年01期

4 張毅男;卟啉病病人的麻醉用藥[J];國外醫(yī)學(xué).麻醉學(xué)與復(fù)蘇分冊;1994年05期

5 Kanan C;陳韻仙;;妊娠和急性間歇性血卟啉癥[J];國外醫(yī)學(xué).婦產(chǎn)科學(xué)分冊;1989年06期

6 林祖文;血卟啉病系譜調(diào)查報(bào)告[J];海南醫(yī)學(xué);1996年03期

7 盧承德,宋安青,盧佩珍;遲發(fā)性肝性皮膚卟啉病伴性發(fā)育不全一例報(bào)告[J];臨床肝膽病雜志;1992年01期

8 宋凡,王喜寬,雷征霖,白景陽,沈潔;卟啉代謝異常并發(fā)神經(jīng)系統(tǒng)損害5例臨床分析[J];臨床神經(jīng)病學(xué)雜志;2002年05期

9 李娜;唐靜;;遲發(fā)性皮膚卟啉癥1例[J];嶺南皮膚性病科雜志;2009年05期

10 李存保,王美玲,陳寶嬌,張翠榮,白學(xué)敏;遲發(fā)性皮膚卟啉癥患者酶活性研究[J];內(nèi)蒙古醫(yī)學(xué)雜志;1997年06期

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