PDF(Pubmed)
Abstract：
UNASSIGNED: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare monogenic disorder caused by SLC34A3 pathogenic variants. HHRH is characterized by kidney phosphate wasting, hypophosphatemia, hypercalciuria, an elevated 1,25-dihydroxyvitamin D level, nephrocalcinosis, and urinary stone disease. Previously, we reported a 100% prevalence of kidney cysts in the related CYP24A1 deficiency. Thus, in the current study, we characterized cysts\' presence in HHRH, another monogenic cause of hypercalciuria, nephrocalcinosis, and urinary stone disease.
UNASSIGNED: Case series.
UNASSIGNED: Medical records from the Mayo Clinic and the Rare Kidney Stone Consortium monogenic stone disease database were queried for patients with a genetically confirmed HHRH diagnosis. The number, sizes, and locations of kidney cysts in each patient were recorded.
UNASSIGNED: Twelve patients with SLC34A3 pathogenic variants were identified (7 monoallelic, 5 biallelic). Of these, 5 (42%) were males, and the median (Q1, Q3) ages were 16 years (13, 35 years) at clinical presentation and 42 years (20, 57 years) at genetic confirmation. Kidney cysts were present in 9 of 12 (75%) patients, and the median (Q1, Q3) age at first cyst detection was 41 years (13, 50 years). The median number of cysts per patient was 2.0 (0.5, 3.5). Fifty percent of adult patients had a cyst number that exceeded the 97.5th percentile of an age- and sex-matched control population. All children had at least 2 or more total cysts. None had a family history of cystic kidney disease.
UNASSIGNED: Retrospective study, possible selection bias, single-center experience.
UNASSIGNED: A strong association between HHRH and kidney cysts was observed. Similarities in the biochemical profiles of HHRH and CYP24A1 deficiency suggest elevated active vitamin D and hypercalciuria may be potential cystogenic factors. Further studies are needed to understand how genetic changes in SLC34A3 favor cyst formation.
UNASSIGNED: Case series.
UNASSIGNED: Medical records from the Mayo Clinic and the Rare Kidney Stone Consortium monogenic stone disease database were queried for patients with a genetically confirmed HHRH diagnosis. The number, sizes, and locations of kidney cysts in each patient were recorded.
UNASSIGNED: Twelve patients with SLC34A3 pathogenic variants were identified (7 monoallelic, 5 biallelic). Of these, 5 (42%) were males, and the median (Q1, Q3) ages were 16 years (13, 35 years) at clinical presentation and 42 years (20, 57 years) at genetic confirmation. Kidney cysts were present in 9 of 12 (75%) patients, and the median (Q1, Q3) age at first cyst detection was 41 years (13, 50 years). The median number of cysts per patient was 2.0 (0.5, 3.5). Fifty percent of adult patients had a cyst number that exceeded the 97.5th percentile of an age- and sex-matched control population. All children had at least 2 or more total cysts. None had a family history of cystic kidney disease.
UNASSIGNED: Retrospective study, possible selection bias, single-center experience.
UNASSIGNED: A strong association between HHRH and kidney cysts was observed. Similarities in the biochemical profiles of HHRH and CYP24A1 deficiency suggest elevated active vitamin D and hypercalciuria may be potential cystogenic factors. Further studies are needed to understand how genetic changes in SLC34A3 favor cyst formation.
摘要：
未经证实：伴有高钙尿症（HHRH）的遗传性低磷血症性病是由SLC34A3致病变异引起的一种罕见的单基因疾病。HHRH的特点是肾脏的磷酸盐消耗，低磷酸盐血症,高钙尿症,1,25-二羟维生素D水平升高,肾钙化病,和泌尿系结石疾病。以前,我们报道了相关CYP24A1缺乏症中肾囊肿的患病率为100%.因此，在目前的研究中，我们描述了HHRH中囊肿的存在，高钙尿症的另一个单基因原因，肾钙化病,和泌尿系结石疾病。
未经评估：案例系列。
UNASSIGNED：来自Mayo诊所和罕见肾结石联合会单基因结石疾病数据库的医疗记录被查询为基因证实的HHRH诊断的患者。数字,尺寸,并记录每位患者的肾囊肿位置.
UNASSIGNED：确定了12名SLC34A3致病变异的患者（7名单等位基因，5双等位基因)。其中,5（42%）为男性，临床表现时的中位年龄(Q1,Q3)为16岁(13,35岁),遗传确认时的中位年龄为42岁(20,57岁).12例患者中有9例（75%）出现肾囊肿，首次囊肿检测时的中位年龄(Q1,Q3)为41岁(13,50岁).每位患者的囊肿中位数为2.0（0.5，3.5）。50％的成年患者的囊肿数量超过年龄和性别匹配的对照人群的第97.5百分位数。所有儿童都有至少2个或更多的总囊肿。无家族囊性肾病病史。
未经评估：回顾性研究，可能的选择偏差，单中心体验。
未经证实：观察到HHRH与肾囊肿之间有很强的相关性。HHRH和CYP24A1缺乏症的生化特征相似，提示活性维生素D升高和高钙尿症可能是潜在的膀胱形成因素。需要进一步的研究来了解SLC34A3的遗传变化如何促进囊肿形成。
未经评估：案例系列。
UNASSIGNED：来自Mayo诊所和罕见肾结石联合会单基因结石疾病数据库的医疗记录被查询为基因证实的HHRH诊断的患者。数字,尺寸,并记录每位患者的肾囊肿位置.
UNASSIGNED：确定了12名SLC34A3致病变异的患者（7名单等位基因，5双等位基因)。其中,5（42%）为男性，临床表现时的中位年龄(Q1,Q3)为16岁(13,35岁),遗传确认时的中位年龄为42岁(20,57岁).12例患者中有9例（75%）出现肾囊肿，首次囊肿检测时的中位年龄(Q1,Q3)为41岁(13,50岁).每位患者的囊肿中位数为2.0（0.5，3.5）。50％的成年患者的囊肿数量超过年龄和性别匹配的对照人群的第97.5百分位数。所有儿童都有至少2个或更多的总囊肿。无家族囊性肾病病史。
未经评估：回顾性研究，可能的选择偏差，单中心体验。
未经证实：观察到HHRH与肾囊肿之间有很强的相关性。HHRH和CYP24A1缺乏症的生化特征相似，提示活性维生素D升高和高钙尿症可能是潜在的膀胱形成因素。需要进一步的研究来了解SLC34A3的遗传变化如何促进囊肿形成。
