Alvarez Aparicio E, Prieto Veiga J, Blázquez García J, de Manueles Jiménez J, Palomero Elorduy B, Herrera Criado F, Salazar Villalobos V
An Esp Pediatr. 1985 Apr 15;22(5):402-6.
We report three patients presenting symptoms of tetany at eleven months, five years and seven years. They had hypocalcemia hypomagnesemia, hyperphosphatemia and elevated phosphate tubular reabsorption. PTH serum levels were decreased and cAMP urinary excretion was very low. Clinical and biological findings suggest hypoparathyroidism, but due to peculiar phenotype of one patient differential diagnosis is established.
我们报告了三名分别在11个月、5岁和7岁时出现手足搐搦症状的患者。他们存在低钙血症、低镁血症、高磷血症以及肾小管对磷的重吸收增加。血清甲状旁腺激素(PTH)水平降低,尿中环磷酸腺苷(cAMP)排泄量极低。临床和生物学检查结果提示甲状旁腺功能减退,但由于其中一名患者的特殊表型,需进行鉴别诊断。