Congenital Nephrotic Syndrome of Finnish Type. A Report of Two Cases
Sindrom nefrotic congenital de tip finlandez – Prezentarea a două cazuri Carmen Duicu1*, Eva Kiss1, Claudia Bănescu2, Virginia Bodescu1, Zsuzsanna Moreh1, Emöke Horvath3
1. 2nd Pediatric Department, University of Medicine and Pharmacy, Tîrgu Mureş2. Genetics Department, University of Medicine and Pharmacy, Tîrgu Mureş 3. Pathology Department, University of Medicine and Pharmacy, Tîrgu Mureş
Congenital nephrotic syndrome of the Finnish type (CNSF) is a rare autosomal recessive disease with high infant mortality without aggressive treatment. CNSF is characterized by massive in utero proteinuria and nephrosis at birth. Themajority of cases are caused by genetic defects in the components of the glomerular filtration barrier, especially nephrin and podocin. Congenital nephrotic syndrome (CNS) may also be a part of a more generalized syndrome or caused by a perinatal infection. Immunosuppressive medication is not helpful in the genetic forms of CNS, and kidney transplantation is the only curative therapy. This paperdescribes the clinical features and outcome of the last 2 patients from 6 with CNSF who have been admitted to Pediatric Clinics from Târgu Mures in the last 15 years. Keywords: congenital nephrotic syndrome, proteinuria
Sindromul nefrotic congenital tip finlandez este o boală rară, cu transmitere autozomal recesivă având o mortalitate infantilă ridicată fară un tratament agresiv. Secaracterizează prin proteinurie masivă „in utero” şi sindrom nefrotic prezent de la naştere. Majoritatea cazurilor sunt determinate de un defect genetic la nivelul componentelor membranei bazale glomerulare, nefrina şi podocina. Sindromul nefrotic congenital poate fi partea unui sindrom generalizat sau cauzat de o infecŃie perinatală. Tratamentul imunosupresiv nu este eficient în formele genetice desindrom nefrotic, transplantul renal constituind singura opŃiune terapeutică în aceste cazuri. În această lucrare descriem ultimele 2 cazuri cu CNSF din cele 6 care au fost internate în clinicile de pediatrie din Târgu Mureş în ultimii 15 ani. Cuvinte cheie: sindrom nefrotic congenital, proteinurie Corresponding author: Carmen Duicu, University of Medicine and Pharmacy Târgu Mureş - 2nd PediatricDepartment, 38 Gh. Marinescu Str, 540139 Tg. Mureş, România Phone: +40742092145, Email: email@example.com
Revista Română de Medicină de Laborator Vol. 17, Nr. 4, Decembrie 2009
CNSF is the most frequent of all types of CNS. It was described for the first time in 1959 by Hallman and Hjelt (1). CNSF is inherited as an autosomal recessive trait. The proportion of affectedchildren in sibships is close to 25% (2). CNSF is the commonest form of the disease and occurs with an incidence of 1.2/ 10 000 live births in Finland (3, 4). The disease is not exclusive to Finland and has been described throughout the world. CNSF is characterized by massive proteinuria, a large placenta (over 25% of the child's birth weight) and nephrotic syndrome from birth (3, 5). Thedefinition is sometimes extended to children who develop these features within the first 3 months of life (3, 6). The differential diagnosis includes Drash syndrome, which consists of the triad of Wilms’ tumor, male pseudohermaphroditism, and progressive renal failure secondary to diffuse mesangial sclerosis; nail-patella syndrome; Lowe syndrome. Congenital infection with Treponema Pallidum, Toxoplasmagondii, Cytomegalovirus or Human Immunodeficiency Virus can also present with CNS (3, 6-8). Diagnosis of CNSF in our cases was based on massive proteinuria, manifestation of nephrotic syndrome soon after birth, exclusion of other types of CNS and typical findings in renal histology. These cases are reported to create awareness about this clinical entity in this part of the world especially among...