Dilated Cardiomyopathy and Nail-Patella Syndrome: A Case Report

被引：1

作者：

Khadka, Nasatya ^{[1
]}

Pooja, K. C. ^{[2
]}

Sharma, Shailendra ^{[3
]}

Sharma, Sandesh ^{[4
]}

Rayamajhi, Sumugdha ^{[5
]}

机构：

[1] Emilio Aguinaldo Coll, Med, Manila, Philippines

[2] Nepal Dev Soc, Internal Med, Kathmandu, Nepal

[3] Sparrow Hlth Syst, Nephrol, Lansing, MI USA

[4] Kausilya Aspatal, Internal Med, Banke, Nepal

[5] Michigan State Univ, Coll Human Med, Internal Med, E Lansing, MI USA

来源：

CUREUS JOURNAL OF MEDICAL SCIENCE | 2023年 / 15卷 / 11期

关键词：

nail-patella syndrome; dysplastic fingernail; dysplastic patella; pitted nail; end stage renal disease (esrd); dilated cardiomyopathy (dcm); HYPOTHYROIDISM;

D O I：

10.7759/cureus.48969

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Nail-patella syndrome (NPS) is a rare genetic disorder with multiple skeletal deformities and a variety of extra-skeletal involvements. We present a 17-year-old male with a clinical tetrad of skeletal abnormalities, multiple bony deformities, advanced renal failure, hypothyroidism, and dilated cardiomyopathy. A clinical diagnosis of NPS was made, supported by radiographic findings, and corroborated by compatible renal biopsy results. There are very few published reports describing the association of dilated cardiomyopathy with this syndrome. A high index of suspicion is needed to make this diagnosis, given myriads of multi-systemic manifestations.

引用

页数：7

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