Eberle F, Hartenfels S, Pralle H, Käbisch A
Klin Wochenschr. 1984 Apr 16;62(8):371-6. doi: 10.1007/BF01716257.
Twenty members of a family with adult hypophosphatasia were examined clinically and biochemically. Severe caries causing early loss of permanent teeth was the only clinical symptom which could be attributed to hypophosphatasia. None of them had a history of defective bone mineralization, rachitic skeletal alterations, and recurrent pseudofractures or fractures. An iliac crest bone biopsy of the proposita showed a normal finding corresponding to the age of the patient. Four family members in two subsequent generations were affected, thus suggesting an autosomal dominant inheritance. Their serum and leukocyte alkaline phosphatases were reduced. The phosphoethanolamine (PEA) excretion in the urine was increased to a level which suggests a heterozygote state. The serum alkaline phosphatase activity could be ascribed to the liver isoenzyme fraction. This was shown by polyacrylamide electrophoresis, by inhibition studies with organ-specific inhibitors, heat inactivation, inhibition by antibodies, and treatment with neuraminidase. The proposita had an unexplained, diffuse fatty infiltration of the liver. Thus, not only alterations of bone but also of liver metabolism in hypophosphatasia should be considered. The variety of adult hypophosphatasia described in this paper is characterized by the lack of severe bone abnormalities, the apparently autosomal dominant inheritance, and the reduction of bone and intestinal isoenzyme in the serum. Our study suggests that hypophosphatasia is a heterogeneous disorder which includes both severe and clinically mild forms.
对一个患有成人低磷酸酯酶症的家族中的20名成员进行了临床和生化检查。严重龋齿导致恒牙过早脱落是唯一可归因于低磷酸酯酶症的临床症状。他们中没有人有骨矿化缺陷、佝偻病骨骼改变以及反复出现假骨折或骨折的病史。先证者的髂嵴骨活检结果与患者年龄相符，显示正常。随后两代中的四名家族成员受影响，因此提示为常染色体显性遗传。他们的血清和白细胞碱性磷酸酶降低。尿中磷酸乙醇胺（PEA）排泄增加到提示杂合子状态的水平。血清碱性磷酸酶活性可归因于肝脏同工酶部分。这通过聚丙烯酰胺电泳、用器官特异性抑制剂进行的抑制研究、热失活、抗体抑制以及神经氨酸酶处理得以证明。先证者有无法解释的肝脏弥漫性脂肪浸润。因此，低磷酸酯酶症不仅应考虑骨骼改变，还应考虑肝脏代谢改变。本文描述的成人低磷酸酯酶症的特点是缺乏严重骨骼异常、明显的常染色体显性遗传以及血清中骨和肠道同工酶减少。我们的研究表明，低磷酸酯酶症是一种异质性疾病，包括严重和临床轻度形式。
