Video Experimental Relacionado

Updated: Feb 4, 2026

Induction of Nephrotic Syndrome in Mice by Retrobulbar Injection of Doxorubicin and Prevention of Volume Retention by Sustained Release Aprotinin

Induction of Nephrotic Syndrome in Mice by Retrobulbar Injection of Doxorubicin and Prevention of Volume Retention by Sustained Release Aprotinin

Published on: May 6, 2018

Una rara mutación de NPHS2 (E130K) en el síndrome nefrótico hereditario resistente a esteroides: un reporte de caso

Ramzi Hmedan Mujahed¹, Omar Hammam Salloum², Nimatallah Fares Ishreiteh²

¹Department of Pediatrics, Hebron Governmental Hospital, Hebron, State of Palestine.

Case reports in nephrology

|February 2, 2026

Resumen

El síndrome nefrótico hereditario resistente a esteroides (SRNS) en un niño fue diagnosticado mediante pruebas genéticas que revelaron mutaciones en NPHS2. El diagnóstico temprano mediante pruebas genéticas y biopsia renal es crucial para el manejo de esta rara afección.

Área de la Ciencia:

Nefrología Pediátrica
Genética Médica
Enfermedades Raras

Sus antecedentes:

El síndrome nefrótico hereditario resistente a esteroides (SRNS) es un trastorno genético raro.
Las mutaciones en el gen NPHS2, que codifica la podocina, son una causa común de SRNS, que generalmente se presenta en la infancia.
Las presentaciones atípicas pueden retrasar el diagnóstico.

Objetivo del estudio:

Informar un caso de SRNS en un niño pequeño con una presentación inusual.
Enfatizar el papel de las pruebas genéticas y la biopsia renal en el diagnóstico de SRNS.
Discutir la base genética y el manejo del síndrome nefrótico asociado a NPHS2.

Principales métodos:

Presentación de caso clínico de un varón de 2 años y 8 meses.
Investigaciones de laboratorio que incluyen análisis de orina, bioquímica sérica y pruebas de función hepática.
Pruebas genéticas de mutaciones en el gen NPHS2 y biopsia renal con inmunofluorescencia.

Principales resultados:

El paciente presentó fiebre recurrente, convulsiones y edema, con hallazgos de proteinuria, hipoalbuminemia e hipercolesterolemia.
Las pruebas genéticas revelaron mutaciones heterocigotas compuestas (R138X y E130K) en el gen NPHS2.
La biopsia renal mostró enfermedad de cambios mínimos; la inmunofluorescencia fue negativa.

Conclusiones:

Este caso subraya la importancia de las pruebas genéticas tempranas y la biopsia renal para diagnosticar el SRNS, especialmente en niños con síntomas atípicos.
La identificación de mutaciones en NPHS2 es vital para el diagnóstico preciso, la guía del tratamiento y el pronóstico en el SRNS.
Se inició un manejo de apoyo con enalapril para el paciente.

Palabras clave:

mutación NPHS2 síndrome nefrótico congénito glomeruloesclerosis focal segmentaria (FSGS)nefropatía genética enfermedad renal hereditaria enfermedad de cambios mínimos (MCD)nefrología pediátrica podocina proteinuria síndrome nefrótico resistente a esteroides (SRNS)

Más Videos Relacionados

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors

A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors

Published on: December 7, 2014

Videos de Conceptos Relacionados

Nephrotic Syndrome I : Introduction

Nephrotic 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...

Nephrotic Syndrome II : Assessment and Medical Management

Nephrotic 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...

Nephrotic Syndrome III : Nursing Management

Nephrotic Syndrome III : Nursing Management

Nursing management for nephrotic syndrome adapts as the disease progresses, with strategies evolving to address advancing symptoms and complications.Early-Stage Management In the early stages, nursing interventions for nephrotic syndrome resemble those used in managing acute glomerulonephritis, focusing on symptom monitoring, fluid balance, and managing mild to moderate edema.Vital Signs: Regularly monitor blood pressure, pulse, respiratory rate, and temperature to promptly identify...

Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Viral Mutations

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...