Noblins M, Kleinknecht D, Dommergues J P, Nazaret C, Garay R P, Jullien M, Guillot M, Fries D, Charpentier B
Service de Pédiatrie Générale, Hôpital de Bicêtre, Le Kremlin-Bicêtre.
Arch Fr Pediatr. 1992 Oct;49(8):685-91.
Liddle's syndrome (or pseudoprimary aldosteronism) is a rare hereditary disease; only 18 cases have been reported since 1963. Its cause remains unclear, but one of its features is increased cell membrane permeability to ions.
A diagnosis of Liddle's syndrome was made in 4 new cases, all female, two of them sisters (cases n0 3 and 4), at the ages of 2, 12, 5 and 4 years. The first manifestations were dehydratation with hypokalemia at 6 months (case n0 1), hypertension at 2 years (case n0 2), polydipsia with poor weight and height gain at 5 and 4 years of age (cases n0 3 and 4). At diagnosis, all the patients had severe hypertension, metabolic alkalosis, hypokalemia and hyperkaliuria, low plasma renin activity and serum aldosterone levels. Administration of antihypertensive agents was without effect, but the hypertension was reduced when triamterene and low-sodium diet were used. Hypercalciuria was observed in 2 cases and nephrocalcinosis in 2 (case n0 1 had both hypercalciuria and nephrocalcinosis). The 2 oldest patients (n0 3 and 4) developed progressive kidney failure, possibly due to reno-vascular disease secondary to hypertension. Patient n0 3 underwent kidney transplantation 18 years after the first symptoms of the disease. This resulted in the complete disappearance of her hypokalemia and hypertension. The red blood cell membrane permeability to K+ and Cl- was studied in all 4 cases before triamterene treatment. The passive permeability to K+ and (K+/Cl-) cotransport were both elevated. A second study, 3 years (cases n0 2 and 3) and 8 years (cases n0 1 and 4) later, of patients treated with triamterene showed low values for passive K+ permeability and (K+/Cl-)-cotransport.
The 4 new cases of Liddle's syndrome had the classic features of the disease, except for hypercalciuria and nephrocalcinosis in 2 of them. The cell membrane permeability data are difficult to interpret. Hypokalemia and hypertension were immediately corrected after kidney transplantation in one case and remained so for 4 years, suggesting that this disease is tubular in origin.
利德尔综合征（或假性原发性醛固酮增多症）是一种罕见的遗传性疾病；自1963年以来仅报道了18例。其病因尚不清楚，但其特征之一是细胞膜对离子的通透性增加。
确诊了4例新的利德尔综合征病例，均为女性，其中2例为姐妹（病例编号3和4），年龄分别为2岁、12岁、5岁和4岁。首发表现分别为6个月时脱水伴低钾血症（病例编号1）、2岁时高血压（病例编号2）、5岁和4岁时多饮伴体重和身高增长缓慢（病例编号3和4）。诊断时，所有患者均有重度高血压、代谢性碱中毒、低钾血症和高钾尿症，血浆肾素活性和血清醛固酮水平降低。使用抗高血压药物无效，但使用氨苯蝶啶和低钠饮食后高血压有所减轻。2例患者出现高钙尿症，2例出现肾钙质沉着症（病例编号1同时有高钙尿症和肾钙质沉着症）。2例年龄较大的患者（编号3和4）出现进行性肾衰竭，可能是由于高血压继发的肾血管疾病所致。病例编号3在出现疾病首发症状18年后接受了肾脏移植。这导致她的低钾血症和高血压完全消失。在所有4例患者接受氨苯蝶啶治疗前，研究了红细胞膜对K+和Cl-的通透性。对K+的被动通透性和（K+/Cl-）协同转运均升高。在使用氨苯蝶啶治疗3年（病例编号2和3）和8年（病例编号1和4）后进行的第二项研究显示，对K+的被动通透性和（K+/Cl-）协同转运的值较低。
4例新的利德尔综合征病例具有该疾病的典型特征，其中2例除外有高钙尿症和肾钙质沉着症。细胞膜通透性数据难以解释。1例患者在肾脏移植后低钾血症和高血压立即得到纠正，并持续了4年，提示该疾病起源于肾小管。
