肝脏疾病引起的低磷酸症患者血清碱性磷酸酶升高

IF 1.6 4区 医学 Q3 GENETICS & HEREDITY
Evert F.S. van Velsen , Zografia Zervou , M. Carola Zillikens
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引用次数: 0

摘要

背景磷酸症(HPP)是一种罕见的遗传性疾病,由ALPL基因的致病性功能丧失变异引起,该基因编码碱性磷酸酶(ALP;TNSALP)。低血清ALP是HPP的生化标志,但目前尚不清楚ALP水平是否会因并发肝脏疾病而升高,这可能导致HPP的漏诊。我们报告了一位遗传证实的HPP患者,由于酒精性肝炎,他表现出短暂的血清ALP水平升高。临床报告1例71岁男性在骨中心接受HPP监测。血清ALP始终较低(23 U/L;参考值:115 U/L)。随访期间血清ALP升高(156 U/L,进一步升高至204 U/L),血清γ -谷氨酰转移酶和转氨酶升高,骨特异性ALP升高(18.7 μg/L;参考值:5.7 ~ 32.9 μg/L)。这是由于酒精引起的肝炎。戒酒后,血清ALP和骨特异性ALP水平均恢复到初始低水平(分别为30 U/L和4.3 μg/L)。结论:我们证实了一位71岁HPP患者的病史,在常规随访期间,由于酒精性肝炎,血清ALP水平升高至204 U/L。本病例说明,当ALP水平正常或因合并肝脏疾病而升高时,HPP的诊断可能会被遗漏。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Serum alkaline phosphatase can be elevated in patients with hypophosphatasia due to liver disease

Background

Hypophosphatasia (HPP) is a rare inherited disorder caused by pathogenic loss-of-function variants in the ALPL gene, encoding the tissue-nonspecific isoenzym of alkaline phosphatase (ALP; TNSALP). Low serum ALP is the biochemical hallmark of HPP, but it is unknown whether ALP levels can increase due to concurring liver disease, which may lead to a missed diagnose of HPP. We present a patient with genetically confirmed HPP, who showed a transient increase of serum ALP levels due to alcohol-induced hepatitis.

Clinical report

A 71-year old man was seen at our Bone Center for surveillance of HPP. Serum ALP was always low (23 U/L; reference value: <115 U/L). During follow-up, his serum ALP increased (156 U/L, further rising to 204 U/L), with concomitantly elevated serum gamma-glutamyl transferase and transaminases, and a rise in bone specific ALP (18.7 μg/L; reference value: 5.7–32.9 μg/L). This was attributed to alcohol-induced hepatitis. After refraining from alcohol intake, both serum ALP and bone specific ALP levels returned to initial low levels (30 U/L and 4.3 μg/L respectively).

Conclusions

We demonstrated the history of a 71-year old patient with HPP, presenting during routine follow-up with an elevated serum ALP level up to 204 U/L due to alcohol-induced hepatitis. This case illustrates that the diagnosis of HPP can potentially be missed when ALP levels are normal or elevated due to a concomitant liver disease.

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来源期刊
CiteScore
4.10
自引率
0.00%
发文量
193
审稿时长
66 days
期刊介绍: The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.
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