A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants

Keyphrases

• Genetic Variants 100%
• Compound Heterozygous mutation 100%
• Congenital Nephrotic Syndrome 100%
• Crescent 100%
• NPHS1 100%
• Nephrin 66%
• Podocyte Foot Process Effacement 66%
• Etiology 33%
• Electron Microscopy 33%
• Autosomal Recessive 33%
• Inherited Disorders 33%
• Immunofluorescence 33%
• Pathogenic Variants 33%
• Glomerular Filtration 33%
• Variants of Uncertain Significance 33%
• Missense Variants 33%
• Podocyte 33%
• Genetic Testing 33%
• Novel Variants 33%
• Light Microscopy 33%
• Nephrotic Syndrome 33%
• Bilateral Nephrectomy 33%
• Focal Segmental Glomerulosclerosis 33%
• Steroid Resistance 33%
• Minimal Change Disease 33%
• Filtration Mechanism 33%
• Global Glomerulosclerosis 33%
• Atypical Findings 33%
• Airyscan 33%
• Crescent Formation 33%
• Massive Proteinuria 33%

Medicine and Dentistry

• Podocyte 100%
• Congenital Nephrotic Syndrome 100%
• Nephrin 66%
• Immunofluorescence 33%
• Glomerulus Filtration 33%
• Genetic Screening 33%
• Electron Microscopy 33%
• Proteinuria 33%
• Autosomal Recessive Inheritance 33%
• Nephrotic Syndrome 33%
• Glomerulosclerosis 33%
• Cell Body 33%
• Bilateral Nephrectomy 33%
• Minimal Change Disease 33%
• Diseases 33%