UMOD and you! Explaining a rare disease diagnosis.
UMOD and you! Explaining a rare disease diagnosis.
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DOI：
10.1007/s44162-022-00005-4
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发表时间：
2022
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对一种罕见的遗传性疾病进行精确的分子遗传学诊断几乎总是一段漫长的旅程。幸运的是，现代分子检测策略正在允许做出更多的诊断。有许多不同的罕见遗传性肾脏疾病，这些疾病的遗传异质性和临床多样性经常导致命名混乱。常染色体显性遗传性肾小管间质肾病(ADTKD)就是一个例子。ADTKD是一种遗传性肾脏疾病，随着时间的推移会导致肾功能恶化，通常最终导致终末期肾脏疾病，约占该队列的2%。UMOD是与这种疾病有关的最常见的基因，但至少有6种亚型。目前，对ADTKD尚无特效治疗方法。在这里，我们回顾目前对这种情况的理解，并提供以患者为中心的信息，以便从概念上了解这种疾病，以便更好地认识、诊断和处理。
The precise molecular genetic diagnosis of a rare inherited disease is nearly always a prolonged odyssey. Fortunately, modern molecular testing strategies are allowing more diagnoses to be made. There are many different rare inherited kidney diseases and both the genetic heterogeneity of these conditions and the clinical diversity often leads to confusing nomenclature. Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an example of this. ADTKD, an inherited kidney disease that leads to worsening of kidney function over time, often culminating in end stage kidney disease, accounting for around 2% of this cohort. UMOD is the most common gene implicated in this disorder but there are at least 6 subtypes. At present, there are no specific treatments for ADTKD. Here, we review the current understanding of this condition and provide patient-centred information to allow conceptual understanding of this disease to allow better recognition, diagnosis and management.