Arthrogryposis, renal dysfunction, and cholestasis syndrome is a rare autosomal recessive disorder caused by mutations in the VPS33B and VIPAR genes. Most cases are fatal within the first year of life. Here we describe one of the two oldest patients with arthrogryposis, renal dysfunction, and cholestasis syndrome. This is a 12-year-old Hispanic female, from a non-consanguineous parents, diagnosed with an incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome with arthrogryposis and renal tubular dysfunction but without cholestasis. At 11 years of age, she was found to have impaired renal function, nephrotic-range proteinuria, Fanconi syndrome, and distal renal tubular acidosis. She also had hypercalciuria, nephrogenic diabetes insipidus, and small kidneys by renal ultrasound. Genetic analysis using whole exome sequencing showed a mutation and a partial deletion in the VPS33B gene. Further studies showed that the mother has a partial deletion in the VPS33B gene. Her medication regimen includes potassium citrate and enalapril.

中文翻译：

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罕见的关节软化，肾功能不全和胆汁淤积（ARC）综合征病例，以及肾脏受累情况的回顾：问题。

关节软化，肾功能不全和胆汁淤积综合症是由VPS33B和VIPAR基因突变引起的罕见的常染色体隐性遗传疾病。大多数病例在生命的第一年内都是致命的。在这里，我们描述了两个最老的关节置换，肾功能不全和胆汁淤积综合症患者之一。这是一名12岁的西班牙裔女性，来自非近亲父母，被诊断出关节置换，肾功能不全和胆汁淤积综合症的表型不完整，并伴有关节置换和肾小管功能障碍，但无胆汁淤积。在11岁时，她被发现患有肾功能受损，肾病范围蛋白尿，范可尼综合征和远端肾小管酸中毒。通过肾脏超声检查，她还患有钙尿过多，肾病性尿崩症和小肾脏。使用全外显子组测序的遗传分析显示VPS33B基因存在突变和部分缺失。进一步的研究表明，母亲的VPS33B基因有部分缺失。她的药物治疗方案包括柠檬酸钾和依那普利。