Tasic Velibor, Gucev Zoran
Pediatr Endocrinol Rev. 2015 Sep;13(1):468-76.
Diagnosis and management of pediatric nephrolithiasis/nephrocalcinosis is a very complex and challenging task for every pediatrician. It is based on correct. disease history taking, which may guide to the mode of inheritance (dominant, recessive, x-linked). Ethnicity and consanguinity should also be investigated since they predispose to high prevalence of certain disorders. One should always begin with cheap and available screening tests. Herein we will review clinical, biochemical, metabolic and genetic characteristics of the inherited diseases which lead to nephrolithiasis/nephrocalcinosis, such as: idiopathic hypercalciuria, renal hypophosphatemia, renal tubular acidosis, idiopathic infantile hypercalcemia, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, hypocitraturia, cystinuria, primary hyperoxaluria and renal hypouricemia. Modern genetic techniques such as next generation sequencing enable nowadays diagnosis of rare disease using only a blood sample, trough massive parallel resequencing of many genes. This is very helpful for anuric patients or on dialysis where blood and urine biochemistry are not informative. Genetic testing also replaces invasive liver biopsy or unpleasant acidification tests and enables prenatal or early postnatal diagnosis.
对每位儿科医生来说，小儿肾结石/肾钙质沉着症的诊断和管理是一项非常复杂且具有挑战性的任务。它基于正确的病史采集，这可能有助于确定遗传模式（显性、隐性、X连锁）。还应调查种族和近亲结婚情况，因为它们易导致某些疾病的高发病率。应始终从廉价且可行的筛查测试开始。在此，我们将回顾导致肾结石/肾钙质沉着症的遗传性疾病的临床、生化、代谢和遗传特征，例如：特发性高钙尿症、肾性低磷血症、肾小管酸中毒、特发性婴儿高钙血症、丹特病、家族性低镁血症伴高钙尿症和肾钙质沉着症、低枸橼酸尿症、胱氨酸尿症、原发性高草酸尿症和肾性低尿酸血症。诸如新一代测序等现代遗传技术如今仅通过采集血样，对许多基因进行大规模平行重测序就能诊断罕见疾病。这对无尿患者或正在接受透析的患者非常有帮助，因为此时血液和尿液生化检查并无诊断价值。基因检测还取代了侵入性的肝活检或令人不适的酸化试验，并能进行产前或产后早期诊断。
