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首页> 外文期刊>Journal of Clinical Medicine Research >An Overlapping Case of Alport Syndrome and Thin Basement Membrane Disease
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An Overlapping Case of Alport Syndrome and Thin Basement Membrane Disease

机译：阿尔波特综合征和薄基底膜病重叠病例

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We report a case of a 48-year-old male who presented with hematuria of at least 10 years, and has a daughter with hematuria as well. The patient has a history of degenerative hearing loss, decreased vision and cataract formation, but no diabetes, hypertension or proteinuria. A full serology and urology workup was negative for any abnormality. A kidney biopsy for the patient revealed a diagnosis of Alport syndrome but was unable to rule out thin basement membrane disease. The biopsy was inconclusive in making the diagnosis but the patient’s clinical presentation led to the diagnosis of Alport syndrome. The patient’s 10-year-old daughter also has hematuria with no clear etiology but now can subsequently be anticipatorily managed for Alport syndrome progression. Due to the rarity of the disease, diagnosis is often missed or delayed by primary care providers especially when no associated proteinuria has yet developed. This can lead to confusion and misdiagnosis with thin basement membrane disease, a generally benign hematuria without kidney failure progression. Additionally, biopsy can be inconclusive in these patients, relying on the physician’s history and physical examination findings to diagnose. It is important to appropriately diagnose Alport syndrome not only to manage the patient’s rate of kidney failure progression but also allow for a higher degree of suspicion, screening and intervention in the patient’s family members. Both the inconclusive nature of kidney biopsies and the usefulness of diagnosis for family member screening are often overlooked in medical literature but are explored in this case.J Clin Med Res. 2016;8(10):764-767doi: http://dx.doi.org/10.14740/jocmr2740w
机译：我们报告了一例48岁的男性，该男性表现出至少10年的血尿，并有一个血尿的女儿。患者有退化性听力丧失，视力下降和白内障形成的病史，但无糖尿病，高血压或蛋白尿。全面的血清学和泌尿科检查对任何异常均不利。患者的肾脏活检显示诊断为Alport综合征，但不能排除基底膜薄病。活检在诊断方面尚无定论，但患者的临床表现导致对Alport综合征的诊断。患者的10岁女儿也有血尿，病因不明，但现在可以根据预期进行Alport综合征进展的治疗。由于该疾病的罕见性，初级保健提供者常常会漏诊或延误诊断，尤其是在尚未出现相关蛋白尿时。这可能会导致基底膜薄病的混淆和误诊，基底膜病通常是良性血尿，无肾衰竭进展。此外，活检在这些患者中尚无定论，只能依靠医生的病史和体格检查结果进行诊断。适当诊断Alport综合征不仅对控制患者的肾衰竭进展速度很重要，而且对患者的家庭成员进行更高程度的怀疑，筛查和干预也很重要。肾脏活检的不确定性和对家庭成员筛查的诊断有用性在医学文献中经常被忽视，但在这种情况下进行了探索。 2016; 8（10）：764-767doi：http：//dx.doi.org/10.14740/jocmr2740w

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