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Atypical Clinical Presentation of Autosomal Recessive Polycystic Kidney Mimicking Medullary Sponge Kidney Disease.

作者信息

Letavernier Emmanuel, Schwoehrer Madeline, Livrozet Marine, Saint-Jacques Camille, Raymond Laure, Saraeva Radoslava, Haymann Jean-Philippe, Frochot Vincent, Daudon Michel, Mesnard Laurent

机构信息

Sorbonne Université, UMR S 1155, Paris, France.

Institut National de la Santé et de la Recherche Médicale, UMR S 1155, Paris, France.

出版信息

Kidney Int Rep. 2021 Dec 6;7(4):916-919. doi: 10.1016/j.ekir.2021.11.035. eCollection 2022 Apr.

DOI:10.1016/j.ekir.2021.11.035
PMID:35497799
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9039475/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c181/9039475/982893ae4d83/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c181/9039475/4a4a4f2298b5/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c181/9039475/982893ae4d83/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c181/9039475/4a4a4f2298b5/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c181/9039475/982893ae4d83/gr2.jpg

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本文引用的文献

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Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD).常染色体隐性遗传性多囊肾病（ARPKD）青年患者的临床病程和并发症。
Sci Rep. 2019 May 28;9(1):7919. doi: 10.1038/s41598-019-43488-w.
2
Heterozygous Pkhd1 mice develop cystic liver disease and proximal tubule ectasia that mimics radiographic signs of medullary sponge kidney.杂合性 Pkhd1 小鼠会发展出囊性肝病和近端小管扩张，这些病变模拟了海绵肾的放射影像学特征。
Am J Physiol Renal Physiol. 2019 Mar 1;316(3):F463-F472. doi: 10.1152/ajprenal.00181.2018. Epub 2019 Jan 2.
3
Chronic pain in medullary sponge kidney: a rare and never described clinical presentation.
一例儿童早期弥漫性肾脏高回声与双等位基因 PKHD1 变异相关。
Pediatr Nephrol. 2024 Sep;39(9):2633-2636. doi: 10.1007/s00467-024-06348-y. Epub 2024 Mar 19.
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Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First Approach.海绵肾髓质及其与原发性远端肾小管酸中毒的关系：病例报告和全面的遗传优先方法。
Nephron. 2024;148(8):569-577. doi: 10.1159/000538037. Epub 2024 Mar 8.
海绵肾合并髓质慢性疼痛：一种罕见且从未描述过的临床表现。
J Nephrol. 2018 Aug;31(4):537-542. doi: 10.1007/s40620-018-0480-8. Epub 2018 Feb 21.
4
Medullary sponge kidney.海绵肾（髓质）。
Curr Opin Nephrol Hypertens. 2013 Jul;22(4):421-6. doi: 10.1097/MNH.0b013e3283622b86.
5
Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease.常染色体隐性遗传多囊肾病纯合子的肝肾表现。
Mol Genet Metab. 2011 Dec;104(4):677-81. doi: 10.1016/j.ymgme.2011.09.001. Epub 2011 Sep 8.
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Identification of GDNF gene sequence variations in patients with medullary sponge kidney disease.鉴定多发性髓质海绵肾患者的 GDNF 基因序列变异。
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