Meier W, Blumberg A, Imahorn W, De Luca F, Wildberger H, Oetliker O
Helv Paediatr Acta. 1979;34(3):257-69.
Two siblings from a consanguineous family, suffering from nephrocalcinosis and nephrolithiasis caused by idiopathic hypercalciuria are described. The condition is associated with bilateral macular colobomata and tapeto-retinal degeneration. It is known that the latter can occur together with different nephropathies; however, until now it has never been described in combination with idiopathic hypercalciuria. Blood calcium levels were found to be normal, calcium excretion rates were, with one exception, more than 6 mg/kg/24 h corrected for 100 ml GFR. Hypomagnesemia of 1.5 and 1.2 mg/dl and hyermagnesuria of 1.9 and 2.5 mg/kg/24 h corrected for 100 ml GFR were found in both patients. Tubular phosphate reabsorption reached 87% and 84% at serum parathormone levels of 0.34 microgram/l and 0.31 microgram/l in the two patients, respectively. Under calcium and magnesium loading the clearance rates of calcium and magnesium were raised whilst there was only a small insignificant increase in the blood levels of these cations. Acid-base titrations showed normal excretion rates of acid and base in one patient and a mild proximal tubular acidosis in the other. Quantitative investigation of the renal concentrating and diluting capacity established a decrease in the formation of the medullary concentrating gradient in both patients.
本文描述了一对来自近亲家庭的兄弟姐妹，他们患有特发性高钙尿症引起的肾钙质沉着症和肾结石。该病症与双侧黄斑缺损和视网膜色素变性有关。已知后者可与不同的肾病同时发生；然而，迄今为止，从未有过其与特发性高钙尿症合并出现的描述。发现血钙水平正常，除一例例外，校正100 ml肾小球滤过率后的钙排泄率超过6 mg/kg/24 h。两名患者均发现血镁水平分别为1.5和1.2 mg/dl，校正100 ml肾小球滤过率后的尿镁排泄量分别为1.9和2.5 mg/kg/24 h。两名患者血清甲状旁腺激素水平分别为0.34微克/升和0.31微克/升时，肾小管磷重吸收率分别达到87%和84%。在钙和镁负荷下，钙和镁的清除率升高，而这些阳离子的血水平仅出现微小的、无显著意义的升高。酸碱滴定显示，一名患者的酸碱排泄率正常，另一名患者存在轻度近端肾小管酸中毒。对肾脏浓缩和稀释能力的定量研究表明，两名患者的髓质浓缩梯度形成均降低。
