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唐氏综合征患者因非神经源性神经源性膀胱(欣曼综合征)诊断延误导致晚期肾衰竭:病例报告

Advanced Renal Failure in a Down Syndrome Patient due to Delayed Diagnosis of Non-Neurogenic Neurogenic Bladder (Hinman Syndrome): A Case Report.

作者信息

Rezaei Ilkhan, Rezaei Fatemeh

机构信息

Assistant Professor of Nephrology, Internal Medicine Department Kermanshah University of Medical Sciences Kermanshah Iran.

Clinical Research Development Center-Imam Reza Hospital-Kermanshah University of Medical Sciences (KUMS) Kermanshah Iran.

出版信息

Clin Case Rep. 2025 Sep 8;13(9):e70879. doi: 10.1002/ccr3.70879. eCollection 2025 Sep.

DOI:10.1002/ccr3.70879
PMID:40933298
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12417312/
Abstract

Nonneurogenic neurogenic bladder (NNB), also known as Hinman syndrome, is a rare medical condition characterized by clinical features resembling neurogenic bladder but without any neurological damage. This syndrome typically presents in children during the toilet-training age but has also been reported in adults. It is more common among patients with Down syndrome regardless of age, likely due to their lower intellectual abilities. Early diagnosis of NNB leads to a favorable prognosis; however, delayed diagnosis and treatment can result in irreversible renal damage and even end-stage renal disease (ESRD), as illustrated in this case. Obtaining accurate medical history from patients with Down syndrome is challenging because they may not report symptoms critical for early diagnosis. Therefore, clinicians should exercise caution when taking histories from this patient population.

摘要

非神经源性神经源性膀胱(NNB),也称为欣曼综合征,是一种罕见的医学病症,其临床特征类似于神经源性膀胱,但没有任何神经损伤。这种综合征通常出现在处于如厕训练年龄的儿童中,但也有在成人中报道的情况。无论年龄大小,它在唐氏综合征患者中更为常见,可能是由于他们智力较低。NNB的早期诊断会带来良好的预后;然而,如本病例所示,诊断和治疗延迟会导致不可逆转的肾损伤,甚至终末期肾病(ESRD)。从唐氏综合征患者那里获取准确的病史具有挑战性,因为他们可能不会报告对早期诊断至关重要的症状。因此,临床医生在从这一患者群体获取病史时应谨慎行事。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c4c0/12417312/449fed36a60f/CCR3-13-e70879-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c4c0/12417312/540937e29c6a/CCR3-13-e70879-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c4c0/12417312/449fed36a60f/CCR3-13-e70879-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c4c0/12417312/540937e29c6a/CCR3-13-e70879-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c4c0/12417312/449fed36a60f/CCR3-13-e70879-g001.jpg

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本文引用的文献

1
End-stage renal disease in a Down syndrome patient caused by delayed diagnosis of nonneurogenic bladder: A case report.唐氏综合征患者因非神经源性膀胱诊断延迟导致终末期肾病:一例报告。
Medicine (Baltimore). 2019 Apr;98(15):e15145. doi: 10.1097/MD.0000000000015145.
2
Neuropathic bladder as a cause of chronic renal failure in children in developing countries.神经性膀胱作为发展中国家儿童慢性肾衰竭的一个病因
Pediatr Nephrol. 2006 Apr;21(4):517-20. doi: 10.1007/s00467-006-0034-5. Epub 2006 Mar 2.
3
Males with Down's syndrome and nonneurogenic neurogenic bladder.
患有唐氏综合征和非神经源性神经源性膀胱的男性。
J Urol. 2003 Feb;169(2):646-9. doi: 10.1097/01.ju.0000047125.89679.28.
4
Learned voiding dysfunction (non-neurogenic, neurogenic bladder) among adults.成人获得性排尿功能障碍(非神经源性、神经源性膀胱)。
Neurourol Urodyn. 2001;20(3):259-68. doi: 10.1002/nau.1003.