症例報告：WT1バリアントを有する小児における嚢胞性外観を伴う新生児腎症
Tuyen Thi Thanh Nguyen1,2, Quynh Thuy Huong Tran3, Huong Thi Thanh Nguyen1
1Neonatalogy 2 - Metabolism - Genetics Department, Children's Hospital 1, Ho Chi Minh City, Vietnam.
Frontiers in pediatrics
|December 26, 2025
まとめ
まれなWT1遺伝子変異（p.Arg467Gln）は、乳児に重度の新生児腎不全および嚢胞性腎臓の外観を引き起こしました。この所見は、ウィルムス腫瘍関連腎症におけるWT1バリアントの強力な効果を強調しています。
科学分野:
- 腎臓病学; 遺伝学; 小児医学
背景:
- ウィルムス腫瘍抑制因子-1（WT1）遺伝子変異は、糸球体腎症、性腺異常、および腫瘍を伴うWT1関連腎症に関連しています。; ジンクフィンガーモチーフに影響を与えるWT1の変異は、しばしば早期発症性糸球体腎症および末期腎疾患への急速な進行につながり、一般的にデニス・ドゥラシュ症候群（DDS）として現れます。; この報告書は、特定のWT1バリアントに関連する、重度の早期発症性腎不全および異常な嚢胞性腎臓の所見を有する新生児について詳述しています。
主な方法:
- 急性無尿性腎不全および特徴的な超音波所見を有する新生児の臨床症例提示。; 既知の疾患遺伝子の病原性バリアントを特定するための次世代シーケンシング（NGS）パネル分析。; 構造的染色体異常を検出するためのゲノムワイドコピー数分析。
結論:
- WT1 p.Arg467Glnバリアントは、優性ネガティブ阻害を介して重度の新生児腎症を引き起こす可能性があります。; このバリアントは、共存する遺伝的修飾因子によって影響を受ける可能性のある、嚢胞性/異形成性腎表現型につながる可能性があります。; COL4A4バリアントおよびその他の修飾遺伝子のWT1関連腎症における役割を明確にするためには、さらなる研究が必要です。
さらに関連する動画
10:51A Possible Zebrafish Model of Polycystic Kidney Disease: Knockdown of wnt5a Causes Cysts in Zebrafish Kidneys
Published on: December 2, 2014
11.4K
07:35Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
Published on: June 23, 2015
11.9K
関連する概念動画
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
01:21Smooth Endoplasmic Reticulum
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
01:10Nephrons
The kidneys are intricate organs with millions of working units known as nephrons. Each nephron features two major structures: the renal corpuscle, which facilitates blood plasma filtration, and the renal tubule, which handles the glomerular filtrate. Blood supply is directly linked to the nephrons. The renal corpuscle consists of the glomerulus, a capillary network, and the Bowman's capsule, a double-walled epithelial structure that encases the glomerulus. The filtering of blood plasma happens...
01:24Nephrotic Syndrome I : Introduction
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of fluid...
01:26Nephrotic Syndrome II : Assessment and Medical Management
IntroductionNephrotic syndrome is a kidney disorder marked by excessive protein loss in the urine, leading to various systemic complications. This condition often results from damage to the glomeruli—the kidney's filtering units—causing proteinuria, low blood protein levels, and fluid retention. Understanding the assessment, diagnosis, and management of nephrotic syndrome is essential for effective treatment and prevention of further kidney damage.AssessmentPatient History: Document any history...
01:24Chronic Kidney Disease II: Clinical Manifestations
Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...