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新生儿肾囊性疾病

Neonatal renal cystic diseases.

作者信息

Khare Anshika, Krishnappa Vinod, Kumar Deepak, Raina Rupesh

机构信息

a Department of Internal Medicine , Northeast Ohio Medical University , Rootstown , OH , USA.

b Cleveland Clinic Akron General/Akron Nephrology Associates , Akron , OH , USA.

出版信息

J Matern Fetal Neonatal Med. 2018 Nov;31(21):2923-2929. doi: 10.1080/14767058.2017.1358263. Epub 2017 Aug 2.

DOI:10.1080/14767058.2017.1358263
PMID:28764564
Abstract

PURPOSE

Neonatal renal cystic diseases have a great impact on the morbidity and mortality of the affected neonates and infants. A good insight into the pathophysiology, diagnosis and treatment options of various neonatal renal cystic diseases aid in early diagnosis and intervention, thereby preventing complications.

METHODS

PubMed search was done for articles on "neonatal renal cystic diseases" and relevant publications including reviews were considered for our article.

RESULTS

Both hereditary and nonhereditary causes of cystic kidney diseases can result in severe morbidity and mortality. The main diagnostic modality is ultrasound imaging and most of the neonatal renal cystic diseases are detected during prenatal ultrasound screening. Commonly encountered neonatal renal cystic diseases are autosomal dominant polycystic kidney disease, autosomal recessive polycystic kidney disease and multicystic dysplastic kidney.

CONCLUSIONS

A thorough knowledge of various renal cystic diseases can be of extreme prognostic value. Physicians should be aware of the impact of early diagnosis and intervention on the lives of those affected. Further research about treatment of these diseases is ongoing and can result in breakthrough therapies for these patients.

摘要

目的

新生儿肾囊性疾病对患病新生儿和婴儿的发病率和死亡率有很大影响。深入了解各种新生儿肾囊性疾病的病理生理学、诊断和治疗选择有助于早期诊断和干预,从而预防并发症。

方法

在PubMed上搜索关于“新生儿肾囊性疾病”的文章,并考虑相关出版物,包括综述,用于撰写我们的文章。

结果

囊性肾病的遗传和非遗传原因均可导致严重的发病率和死亡率。主要诊断方式是超声成像,大多数新生儿肾囊性疾病在产前超声筛查期间被检测到。常见的新生儿肾囊性疾病是常染色体显性多囊肾病、常染色体隐性多囊肾病和多囊性发育不良肾。

结论

全面了解各种肾囊性疾病具有极高的预后价值。医生应意识到早期诊断和干预对患者生命的影响。关于这些疾病治疗的进一步研究正在进行中,可能会为这些患者带来突破性疗法。

相似文献

1
Neonatal renal cystic diseases.新生儿肾囊性疾病
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2
[Renal failure and cystic kidney diseases].[肾衰竭与囊性肾病]
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Neonatal polycystic kidney disease.新生儿多囊肾病
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Perinatal differential diagnosis of cystic kidney disease and urinary tract obstruction: anatomic pathologic, ultrasonographic and genetic findings.围产期多囊肾病和尿路梗阻的鉴别诊断:解剖病理学、超声检查及遗传学发现
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Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.一大群产前受影响的常染色体隐性多囊肾病及其他遗传性囊性肾病患者的产前超声、基因型与结局
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Autosomal recessive polycystic kidney disease: long-term sonographic findings in patients surviving the neonatal period.常染色体隐性多囊肾病:新生儿期存活患者的长期超声检查结果
AJR Am J Roentgenol. 1995 May;164(5):1247-50. doi: 10.2214/ajr.164.5.7717240.
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Ultrasound Imaging of Renal Cysts in Children.儿童肾囊肿的超声成像
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Renal cystic diseases during the perinatal and neonatal period.围产期和新生儿期的肾囊性疾病
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Acta Med Litu. 2021;28(2):308-316. doi: 10.15388/Amed.2021.28.2.5. Epub 2021 Aug 2.
2
Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with Mutations.产前与产后诊断 Meckel-Gruber 和 Joubert 综合征在突变患者中的应用。
Genes (Basel). 2021 Jul 16;12(7):1078. doi: 10.3390/genes12071078.
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Approach to the postnatal sonographic evaluation of prenatally detected abdominopelvic cysts.
产前检测到的腹盆腔囊肿的产后超声评估方法
Ultrasonography. 2022 Jan;41(1):53-73. doi: 10.14366/usg.21070. Epub 2021 May 22.
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Polyvisceral polycystic disease: a case study and review.多脏器多囊性疾病:病例研究与综述。
CEN Case Rep. 2021 Aug;10(3):448-452. doi: 10.1007/s13730-021-00582-1. Epub 2021 Mar 4.
5
Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome.常染色体隐性多囊肾病:一例罕见 PKHD1 突变新生儿病例报告,其表现为快速肾增大和早期致命结局。
Ital J Pediatr. 2020 Oct 15;46(1):154. doi: 10.1186/s13052-020-00922-4.
6
Autosomal recessive polycystic kidney disease (ARPKD) in a Nigerian newborn: a case report.一名尼日利亚新生儿的常染色体隐性多囊肾病(ARPKD):病例报告。
Pan Afr Med J. 2018 Jun 25;30:172. doi: 10.11604/pamj.2018.30.172.15202. eCollection 2018.