Abstract：
BACKGROUND: This case report presents a history of familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC). The patient was admitted to the hospital with hypertensive encephalopathy. FHHNC is a rare autosomal recessive disease caused by mutations in CLDN16 or CLDN19, resulting in insufficient magnesium and calcium kidney reabsorption. FHHNC manifestation starts in childhood, and over the years, its development leads to nephrocalcinosis and, consequently, chronic kidney disease (CKD), which is not slowed by routine administration of magnesium and thiazide diuretics. Ultimately, all FHHNC patients need kidney replacement therapy (KRT). CASE PRESENTATION: The patient was a 28-year-old male diagnosed with FHHNC and admitted to the emergency room due to hypertensive encephalopathy. The current situation was the patient\'s second hospitalization related to a hypertensive emergency caused by under-dialysis. Despite the signs of insufficient functioning of peritoneal dialysis (PD) (the primary chosen form of KRT), the patient refused the proposed conversion to hemodialysis (HD). Symptoms observed upon admission included disorientation, anxiety, and severe hypertension, reaching 213/123 mmHg. Due to his clinical condition, the patient was transferred to the intensive care unit (ICU), where the introduction of continuous veno-venous hemodiafiltration and hypotensive therapy stabilized blood pressure. Within the next few days, his state improved, followed by discharge from ICU. Eventually, the patient agreed to transition from PD to in-center HD. At the time, he was qualified for kidney transplantation, waiting for a compatible donation. CKD and dialysis are factors that significantly affect a patient\'s quality of life, especially in young patients with congenital diseases like FHHNC. CONCLUSIONS: For the aforementioned reasons, appropriate education and psychological support should be ensured to avoid the harmful effects of therapy non-compliance.
UNASSIGNED: https://www.europeanreview.org/wp/wp-content/uploads/Graphical-abstract-1.pdf.
UNASSIGNED: https://www.europeanreview.org/wp/wp-content/uploads/Graphical-abstract-1.pdf.
摘要：
背景：该病例报告有家族性低镁血症伴高钙尿症和肾钙化病（FHHNC）的病史。患者因高血压脑病入院。FHHNC是一种罕见的常染色体隐性遗传疾病，由CLDN16或CLDN19突变引起，导致镁和钙肾脏重吸收不足。FHHNC表现始于童年，多年来，它的发展导致肾钙化，因此,慢性肾脏病（CKD），镁和噻嗪类利尿剂的常规给药不会减慢。最终,所有FHHNC患者都需要肾脏替代治疗(KRT).病例介绍：患者为一名28岁男性，诊断为FHHNC，因高血压脑病入院急诊室。目前的情况是患者第二次住院与透析不足引起的高血压紧急情况有关。尽管腹膜透析（PD）（KRT的主要选择形式）功能不足的迹象，患者拒绝提议的转换为血液透析(HD).入院时观察到的症状包括定向障碍，焦虑,和严重的高血压,达到213/123mmHg。由于他的临床状况,病人被转移到重症监护病房(ICU),连续静脉-静脉血液透析滤过和降压治疗的引入稳定了血压。在接下来的几天里，他的状态改善了，然后从ICU出院。最终,患者同意从PD过渡到中心HD.当时,他有资格做肾移植,等待一个兼容的捐赠。CKD和透析是显著影响患者生活质量的因素，特别是在患有FHHNC等先天性疾病的年轻患者中。结论：由于上述原因，应确保适当的教育和心理支持，以避免治疗不依从性的有害影响。
■https://www.europeanreview.org/wp/wp-content/uploads/Graphical-abstract-1。PDF。
■https://www.europeanreview.org/wp/wp-content/uploads/Graphical-abstract-1。PDF。
