UOS Terapia Conservativa Della Malattia Renale Cronica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Largo Agostino Gemelli 8, 00168, Rome, Italy.
UOC Nefrologia, AOVR, Università degli Studi di Verona, Verona, Italy.
J Nephrol. 2023 Jul;36(6):1605-1614. doi: 10.1007/s40620-023-01693-x. Epub 2023 Jun 26.
Primary hyperoxaluria is a genetic disorder of the metabolism of glyoxylate, the precursor of oxalate. It is characterized by high endogenous production and excessive urinary excretion of oxalate, resulting in the development of calcium oxalate nephrolithiasis, nephrocalcinosis, and, in severe cases, end-stage kidney disease and systemic oxalosis. Three different forms of primary hyperoxaluria are currently known, each characterized by a specific enzymatic defect: type 1 (PH1), type 2 (PH2), and type 3 (PH3). According to currently available epidemiological data, PH1 is by far the most common form (about 80% of cases), and is caused by a deficiency of the hepatic enzyme alanine:glyoxylate aminotransferase.
A survey on rare forms of nephrolithiasis and nephrocalcinosis with a focus on primary hyperoxaluria in the setting of Italian Nephrology and Dialysis Centers, using an online questionnaire, was recently conducted by the Project Group "Rare Forms of Nephrolithiasis and Nephrocalcinosis" of the Italian Society of Nephrology, with the aim of assessing the impact and management of this disorder in clinical practice in Italy.
Forty-five public and private Italian Centers participated in the survey, and responses to the questionnaire were provided by 54 medical professionals. The survey results indicate that 21 out of the 45 participating Centers are managing or have managed primary hyperoxaluria patients, most of whom are on dialysis, or are recipients of kidney transplants.
The data of this survey indicate the need to implement genetic testing in suspected cases of primary hyperoxaluria, not only in the setting of dialysis or transplantation, but also with the aim of encouraging early diagnosis of PH1, which is the only type of primary hyperoxaluria for which specific drug therapy is currently available.
原发性高草酸尿症是一种糖酸代谢的遗传性疾病，糖酸是草酸的前体。其特征为内源性草酸生成过多和尿草酸排泄增加，导致草酸钙肾结石、肾钙质沉着症的发生，在严重的情况下，还会发展为终末期肾病和全身性草酸过多症。目前已知有三种不同形式的原发性高草酸尿症，每种类型都有特定的酶缺陷：1 型（PH1）、2 型（PH2）和 3 型（PH3）。根据目前可用的流行病学数据，PH1 是迄今为止最常见的形式（约占 80%的病例），是由肝脏酶丙氨酸：草酰乙酸氨基转移酶缺乏引起的。
意大利肾脏病学会“罕见肾结石和肾钙质沉着症形式研究”项目组最近采用在线问卷调查的方式，对意大利肾脏病和透析中心中罕见肾结石和肾钙质沉着症的形式进行了调查，重点关注原发性高草酸尿症，旨在评估该疾病在意大利临床实践中的影响和管理。
45 家公立和私立意大利中心参与了该调查，54 名医疗专业人员对问卷做出了回应。调查结果表明，在 45 个参与中心中有 21 个中心正在管理或管理过原发性高草酸尿症患者，其中大多数患者正在接受透析治疗，或正在接受肾移植。
该调查数据表明，需要对疑似原发性高草酸尿症患者进行基因检测，不仅要在透析或移植时进行，还要鼓励早期诊断 PH1，这是目前唯一有特定药物治疗的原发性高草酸尿症类型。
