Chierigo Paolo, Puccetti Oliviero, Visonà Alfonsino, Bassan Franco, Rahmati Mojtaba, Lazzarotto Maurizio, Franzolin Nicola
UO di Urologia, Azienda Ulss 4 Alto Vicentino, Presidi Ospedalieri di Thiene e Schio, Italy.
Urologia. 2010 Oct-Dec;77 Suppl 17:27-31.
The following report describes a case of inherited elevation of alpha-fetoprotein (AFP) in a young male suspected for testicular cancer. AFP shows very high values during fetal life. After birth the synthesis of AFP decreases dramatically, and only trace amounts are detected in the adult. From this age on, serum AFP can rise above normal in some diseases, e.g. liver disorders, and in some kind of tumors. A condition in which persistent high levels of AFP are found, named Hereditary Persistence of AFP (HPAFP), was first reported in 1983 by Ferguson-Smith, and then recorded in the literature only on eleven occasions till 2004. The occurrence of HPAFP may be underestimated. HPAFP can be easily confirmed by testing AFP levels in blood-related family members.
An elevated serum AFP (about 20 µg/mL) was found in a 27-year-old white man with an unremarkable medical history, who was concerned to have left testicular cancer. By our examination, his left testis was markedly reduced in size. ß-HCG, LDH, and liver function were normal. Surgical inguinal exploration with testis and spermatic cord excision was carried out. Postoperative repeated AFP levels remained persistently elevated, in the range from 20 to 30 µg/mL. Careful evaluation for occult cancer showed no abnormality. Histology showed necrotic tissue and could not make a reliable diagnosis. A literature search was done using PubMed by key word "alpha-fetoprotein" and "elevation". Thinking of a hereditary trait, we decided to screen patient's blood-related family members.
AFP was found to be elevated in another four out of six relatives within three generations, unrelated to any disease. This pedigree was consistent with an autosomal dominant inheritance pattern.
HPAFP could mislead the physician. Failure to recognize HPAFP can lead to unsuitable treatments. The existence of this clinically benign condition needs to be considered in both children and adults with unexplained and persistent elevation of AFP, e.g. those diagnosed or suspected for germ cell tumor.
以下报告描述了一名疑似睾丸癌的年轻男性中遗传性甲胎蛋白（AFP）升高的病例。AFP在胎儿期显示出非常高的值。出生后，AFP的合成急剧下降，在成年人中仅检测到微量。从这个年龄起，血清AFP在某些疾病（如肝脏疾病）和某些类型的肿瘤中可高于正常水平。1983年，弗格森 - 史密斯首次报道了一种发现持续高水平AFP的病症，名为遗传性AFP持续存在（HPAFP），直到2004年在文献中仅记录了11次。HPAFP的发生率可能被低估。通过检测与患者有血缘关系的家庭成员的AFP水平，可以很容易地确诊HPAFP。
在一名27岁、病史无异常、担心患左睾丸癌的白人男性中发现血清AFP升高（约20μg/mL）。经我们检查，他的左睾丸体积明显减小。β-HCG、LDH和肝功能均正常。进行了腹股沟手术探查并切除睾丸和精索。术后AFP水平反复持续升高，范围在20至30μg/mL之间。对隐匿性癌症的仔细评估未发现异常。组织学显示为坏死组织，无法做出可靠诊断。使用PubMed以关键词“甲胎蛋白”和“升高”进行文献检索。考虑到遗传特征，我们决定筛查患者的血缘亲属。
在三代以内的另外六名亲属中，有四名AFP升高，与任何疾病无关。这个家系符合常染色体显性遗传模式。
HPAFP可能会误导医生。未能识别HPAFP可能导致不适当的治疗。在AFP原因不明且持续升高的儿童和成人中，例如那些被诊断或怀疑患有生殖细胞肿瘤的患者，需要考虑这种临床良性病症的存在。
