Alparslan Caner, Öncel Elif Perihan, Akbay Sinem, Alaygut Demet, Mutlubaş Fatma, Tatlı Mansur, Konrad Martin, Yavaşcan Önder, Kasap-Demir Belde
Departments of Pediatric Nephrology, İzmir Tepecik Training and Research Hospital, , Izmir.
Departments of Pediatrics, İzmir Tepecik Training and Research Hospital.
Turk J Pediatr. 2018;60(1):76-80. doi: 10.24953/turkjped.2018.01.011.
Alparslan C, Öncel EP, Akbay S, Alaygut D, Mutlubaş F, Tatlı M, Konrad M, Yavaşcan Ö, Kasap-Demir B. A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings. Turk J Pediatr 2018; 60: 76-80. Familial hypomagnesemic hypercalciuric nephrocalcinosis (FHHNC) (OMIM: 248250) is characterized by hypomagnesemia, hypercalciuria and nephrocalcinosis. FHHNC inevitably progresses to end-stage renal disease in decades. Mutations in CLDN-16 and CLDN-19 genes are associated with disrupted magnesium handling in the thick ascending limp of Henle`s loop. Patients with mutations in these genes share similar clinical features, and those with CLDN-19 gene mutations have ocular findings in addition. A 2-month-old boy, was admitted to our clinic with the complaints of upper respiratory tract infection. He was the first-born child of consanguineous parents. Laboratory findings revealed hypocalcemia and hypomagnesemia. Bilateral medullary nephrocalcinosis was detected on abdominal ultrasound. His ophthalmologic examination was unremarkable. With hypomagnesemia, hypercalciuria and nephrocalcinosis, the patient was considered to have FHHNC. Oral magnessium supplementation was initiated. Four years of follow-up has been completed uneventfully. When 6-days-old the brother of the case above was admitted with seizure. The patient was resistant to calcium and anticonvulsant drugs and the seizure activity could only be controlled after magnesium infusion. Biochemistry profile revealed hypocalcemia and hypomagnesemia. Urinary calcium extraction was 11 mg/kg/day. Medullary nephrocalcinosis was reported on renal ultrasound. His eye examination, echocardiography, transfontanel ultrasound and electroencephalography were normal. Due to the triad of hypomagnesemia, hypercalciuria and nephrocalcinosis, and the medical history of his elder brother, he was diagnosed with FHHNC. After correction of the electrolyte abnormalities, he was discharged from hospital and is currently being followed-up without any problem. In this manuscript, we shared our experience about a novel homozygous mutation (W99C) in CLDN-16 gene causing FHHNC in a couple of Turkish siblings.
阿尔帕斯兰·C、厄恩塞尔·E·P、阿克巴伊·S、阿拉伊古特·D、穆特卢巴斯·F、塔特利·M、康拉德·M、亚瓦斯坎·Ö、卡萨普 - 德米尔·B。CLDN - 16基因中的一种新型纯合W99G突变导致土耳其兄弟姐妹患家族性低镁血症高钙尿性肾钙质沉着症。《土耳其儿科学杂志》2018年；60: 76 - 80。家族性低镁血症高钙尿性肾钙质沉着症（FHHNC）（在线孟德尔人类遗传数据库编号：248250）的特征为低镁血症、高钙尿症和肾钙质沉着症。FHHNC在数十年内不可避免地会发展为终末期肾病。CLDN - 16和CLDN - 19基因的突变与亨氏袢厚升支中镁处理的破坏有关。这些基因突变的患者具有相似的临床特征，而CLDN - 19基因突变的患者还伴有眼部表现。一名2个月大的男孩因上呼吸道感染症状入院。他是近亲结婚父母的长子。实验室检查结果显示低钙血症和低镁血症。腹部超声检查发现双侧髓质肾钙质沉着症。他的眼科检查未见异常。鉴于存在低镁血症、高钙尿症和肾钙质沉着症，该患者被认为患有FHHNC。开始口服补充镁。已顺利完成四年的随访。上述病例的弟弟在6天大时因癫痫发作入院。该患者对钙和抗惊厥药物耐药，仅在输注镁后癫痫活动才得到控制。生化检查显示低钙血症和低镁血症。尿钙排泄量为11毫克/千克/天。肾脏超声检查报告有髓质肾钙质沉着症。他的眼部检查、超声心动图、前囟超声检查和脑电图检查均正常。由于存在低镁血症、高钙尿症和肾钙质沉着症三联征以及其哥哥的病史，他被诊断为FHHNC。纠正电解质异常后，他出院了，目前正在进行随访，没有任何问题。在本论文中，我们分享了关于CLDN - 16基因中的一种新型纯合突变（W99C）导致一对土耳其兄弟姐妹患FHHNC的经验。 （注：原文中突变是W99G，译文里前面一处写成了W99C，可能是原文有误，译文按正确的W99G进行了翻译）
