Challenging infantile nephrotic syndrome – management and diagnostic issues

Cornel Aldea,Sorin Man,Dan Delean,Adriana Bungardi,Carmen Duicu,Bogdan Bulata,Teodora Munteanu,Mihai Gafencu

doi:10.37897/rjp.2018.1.2

Abstract

Infantile nephrotic syndrome (INS) is a kidney disorder characterized by nephrotic syndrome presenting between 4 and 12 months of age with hypoalbuminemia, (<2.5 mg/dl), proteinuria(> 40 mg/m2) and edema. Children with infantile nephrotic syndrome appear normal at birth, proteinuria with a bland urine sediment develops postnatally, increasing progressively during the first or the second year of life. From the point of view of etiology, nephrotic syndrome may be idiopathic, genetic or secondary. Renal histopathology is not anymore a key criterion for diagnostic and prognostic in children with SRNS (steroid resistant nephrotic syndrome), having limited value in distinguishing genetic from nongenetic etiologies. Genetic podocytopathies changed diagnostic, prognostic judgment and therapeutic approaches in early onset SRNS. Therapeutic decisions are based on the underlying etiology.

Highlights

Infantile nephrotic syndrome (INS) is a kidney disorder characterized by nephrotic syndrome presenting between 4 and 12 months of age with hypoalbuminemia ( 40 mg/ m2) and edema
PodoNet registry proved that the proportion of patients with a genetic disease cause decreased with increasing manifestation age: from 69.4% in congenital nephrotic syndrome and 49.7% in infantile Nephrotic syndrome (NS) to 15-16% in school children and adolescents [17]
The phenotypic spectrum caused by mutations in genes expressed by glomerular podocytes is wider than initially expected

Summary

GENERAL ARTICLES

Lecturer Cornel Aldea MD, PhD, Teodora Munteanu MD, Dan Delean MD, Bogdan Bulata MD, Adriana Bungardi MD, Prof. Carmen Duicu MD, PhD 1Department of Nephrology and Dialysis Children, 2nd Pediatric Clinic, Emergency Hospital for Children, Cluj-Napoca. 23rd Pediatric Department, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca. 3“Louis Turcanu” Emergency Hospital for Children, “Victor Babes” University of Medicine and Pharmacy, Timisoara 41st Pediatric Department, University of Medicine and Pharmacy, Tg. Mures

INTRODUCTION

PATHOGENESIS AND GENETICS

CLINICAL FEATURES

Findings

DISCUSSION