El Síndrome Nefrótico y el Diagnóstico Genético en Pediatría

P, Marta Azócar

doi:10.4067/s0370-41062011000100002

Cited by 4 publications

(4 citation statements)

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“…Cases that start in less than one year are usually of genetic cause. 5 Our patient was 23 months old but pointed out that there was an important family burden (father and paternal aunt) with corticodependent nephrotic syndrome, confirmed in both cases with renal biopsy as minimum changes (most frequent histopathology) and in both cases with good evolution of renal function so that no genetic study or renal biopsy was performed in the patient presented.…”

Section: Discussionmentioning

confidence: 58%

“…Patients resistant to steroids (mostly focal and segmental glomerulonephritis) have poor long-term prognosis and 50% develop chronic renal disease and 10-30% present genetic mutations for structural proteins of the podocyte. 5 The objective of INS treatment is to achieve remission and minimize the secondary risks of proteinuria (dyslipidemia, invasive bacterial infections, thromboembolic phenomena and malnutrition) and corticosteroids (linear growth stoppage, behavioral changes, obesity, Cushing syndrome, high blood pressure, cataracts, glucose intolerance and bone demineralization). 3 Follow-up requires periodic monitoring of development and growth, symptomatic treatment, correct dosage of treatment and prevention of side effects.…”

Section: Evolutionmentioning

confidence: 99%

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Proteinuria and nephrotic syndrome, how to treat it

Alba¹,

Alba²

2018

JPNC

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Section: Discussionmentioning

confidence: 58%

Section: Evolutionmentioning

confidence: 99%

Proteinuria and nephrotic syndrome, how to treat it

Alba¹,

Alba²

2018

JPNC

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“…In Chile, Azocar et al [ 42 ] performed a molecular study in SRNS children and found NPHS2 mutations in 21%. The mutations identified were homozygosis for p.Pro341Ser in one patient and compound heterozygosis for p.Arg229Gln and p.Ala284Val in six patients [ 42 , 51 ]. In Brazil, our group performed the molecular analysis of NPHS2 in 27 SRNS children and identified disease-causing mutations in 14.8%.…”

Section: Nphs2 Mutations In the World With A CLmentioning

confidence: 99%

NPHS2Mutations: A Closer Look to Latin American Countries

Guaragna

Lutaif

Maciel‐Guerra

et al. 2017

BioMed Research International

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Nephrotic syndrome is one of the most common kidney pathologies in childhood, being characterized by proteinuria, edema, and hypoalbuminemia. In clinical practice, it is divided into two categories based on the response to steroid therapy: steroid-sensitive and steroid resistant. Inherited impairments of proteins located in the glomerular filtration barrier have been identified as important causes of nephrotic syndrome, with one of these being podocin, coded by NPHS2 gene. NPHS2 mutations are the most frequent genetic cause of steroid resistant nephrotic syndrome. The aim of this review is to update the list of NPHS2 mutations reported between June 2013 and February 2017, with a closer look to mutations occurring in Latin American countries.

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“…Dentro del grupo de las GEFS se han detectado mutaciones genéticas para proteínas estructurales del podocito en 10-30%. Estos pacientes no responden a terapia inmunosupresora, progresando a enfermedad renal crónica y eventualmente insuficiencia renal crónica terminal 9,12,13 . Es difícil plantear una recomendación con respecto al estudio genético dado la poca disponibilidad, su alto costo y la baja prevalencia de mutaciones detectadas 2,7 El objetivo fundamental del tratamiento es conseguir una remisión completa, pero una remisión parcial se asocia a una mejor sobrevida renal que la falta de respuesta 6 .…”

Section: Introductionunclassified

Síndrome nefrótico idiopático: recomendaciones de la Rama de Nefrología de la Sociedad Chilena de Pediatría. Parte 2

Hevia

Nazal²,

Rosati

et al. 2015

Revista Chilena de Pediatría

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Idiopathic nephrotic syndrome is the most common glomerular disease in childhood, affecting 1 to 3 per 100,000 children under the age of 16. It most commonly occurs in ages between 2 and 10. Its cause is unknown, and its histology corresponds to minimal change disease in 90% of cases, or focal segmental glomerulosclerosis. Steroid-resistant nephrotic syndrome represents 10-20% of idiopathic nephrotic syndrome in pediatrics. It has a poor prognosis, and its management is a significant therapeutic challenge. Half of patients evolve to end-stage renal disease within 5 years, and are additionally exposed to complications secondary to persistent NS and to the adverse effects of immunosuppressive therapy. The primary goal of treatment is to achieve complete remission, but even a partial remission is associated with a better renal survival than the lack of response. This paper is the result of the collaborative effort of the Nephrology Branch of the Chilean Society of Pediatrics with aims at helping pediatricians and pediatric nephrologists to treat pediatric idiopathic nephrotic syndrome. In this second part, handling of steroid-resistant nephrotic syndrome as well as nonspecific therapies are discussed.

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El Síndrome Nefrótico y el Diagnóstico Genético en Pediatría

Cited by 4 publications

References 0 publications

Proteinuria and nephrotic syndrome, how to treat it

Proteinuria and nephrotic syndrome, how to treat it

NPHS2Mutations: A Closer Look to Latin American Countries

Síndrome nefrótico idiopático: recomendaciones de la Rama de Nefrología de la Sociedad Chilena de Pediatría. Parte 2

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