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      Congenital Nephrotic Syndrome – Finish Type

      case-report

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          Abstract

          Introduction:

          Identification of the NPHS1 gene, which encodes nephrin, was followed by many studies demonstrating its mutation as a frequent cause of congenital nephrotic syndrome (CNS). While this gene is found in 98% of Finnish children with this syndrome, non-Finnish cases have lower level of incidence ranging from 39 to 80%.

          Case report:

          This report describes the clinical presentation of a two-week-old neonate who presented with periorbital and lower extremities edema, abdominal distention, heavy proteinuria, serum hypoproteinemia and failure to thrive. Genetic analysis revealed NHPS1 gene mutation leading to CNS-Finnish type diagnosis.

          Conclusion:

          Through this case we want to create awareness about diagnosis and treatment challenges in developing countries for rare congenital diseases.

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          Most cited references11

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          Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.

          M Kestilä, U Lenkkeri, M Männikkö … (1998)
          Congenital nephrotic syndrome of the Finnish type (NPHS1) is an autosomal-recessive disorder, characterized by massive proteinuria in utero and nephrosis at birth. In this study, the 150 kb critical region of NPHS1 was sequenced, revealing the presence of at least 11 genes, the structures of 5 of which were determined. Four different mutations segregating with the disease were found in one of the genes in NPHS1 patients. The NPHS1 gene product, termed nephrin, is a 1241-residue putative transmembrane protein of the immunoglobulin family of cell adhesion molecules, which by Northern and in situ hybridization was shown to be specifically expressed in renal glomeruli. The results demonstrate a crucial role for this protein in the development or function of the kidney filtration barrier.
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            Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).

            Martin Zenker, Rasheed Gbadegesin, Friedhelm Hildebrandt … (2007)
            Mutations in each of the NPHS1, NPHS2, WT1, and LAMB2 genes have been implicated in nephrotic syndrome, manifesting in the first year of life. The relative frequency of causative mutations in these genes in children with nephrotic syndrome manifesting in the first year of life is unknown. Therefore, we analyzed all 4 of the genes jointly in a large European cohort of 89 children from 80 families with nephrotic syndrome manifesting in the first year of life and characterized genotype/phenotype correlations. We performed direct exon sequencing of NPHS1, NPHS2, and the relevant exons 8 and 9 of WT1, whereas the LAMB2 gene was screened by enzymatic mismatches cleavage. We detected disease-causing mutations in 66.3% (53 of 80) families (NPHS1, NPHS2, WT1, and LAMB2: 22.5%, 37.5%, 3.8%, and 2.5%, respectively). As many as 84.8% of families with congenital onset (0-3 months) and 44.1% with infantile onset (4-12 months) of nephrotic syndrome were explained by mutations. NPHS2 mutations were the most frequent cause of nephrotic syndrome among both families with congenital nephrotic syndrome (39.1%) and infantile nephrotic syndrome (35.3%), whereas NPHS1 mutations were solely found in patients with congenital onset. Of 45 children in whom steroid treatment was attempted, only 1 patient achieved a lasting response. Of these 45 treated children, 28 had causative mutations, and none of the 28 responded to treatment. First, two thirds of nephrotic syndrome manifesting in the first year of life can be explained by mutations in 4 genes only (NPHS1, NPHS2, WT1, or LAMB2). Second, NPHS1 mutations occur in congenital nephrotic syndrome only. Third, infants with causative mutations in any of the 4 genes do not respond to steroid treatment; therefore, unnecessary treatment attempts can be avoided. Fourth, there are most likely additional unknown genes mutated in early-onset nephrotic syndrome.
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              Management of congenital nephrotic syndrome of the Finnish type.

              K. Rönnholm, M Antikainen, M Ala-Opas … (1995)
              Congenital nephrotic syndrome of the Finnish type (CNF) is a rare autosomal recessively inherited disease characterised by intrauterine onset of massive urinary loss of proteins, 90% of which is albumin. The CNF gene has been localised to the long arm of chromosome 19, but the pathogenesis remains unclear. Historically, all CNF patients died, usually within the first 6 months of life. Today, a normal life can be achieved for a child with CNF by correcting the protein deficiency and normalising nutrition. This is accomplished by early intravenous albumin supplementation, nutritional support, aggressive treatment of complications and early renal transplantation, after bilateral nephrectomy and peritoneal dialysis. In the present article current treatment strategies are reviewed, and our own experience with 43 CNF patients during the last 10 years is presented.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Med Arch
                Journal ID (iso-abbrev): Med Arch
                Title: Medical Archives
                Publisher: AVICENA, d.o.o., Sarajevo (Bosnia and Herzegovina )
                ISSN (Print): 0350-199X
                ISSN (Electronic): 1986-5961
                Publication date (Print): June 2016
                Publication date (Electronic): 31 May 2016
                Volume: 70
                Issue: 3
                Pages: 232-234
                Affiliations
                [1 ]Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Republic of Kosovo
                [2 ]Department of Public Health and Clinical Medicine, Umeå University, Sweden
                Author notes
                Corresponding author: Besart Merovci, MD. Pediatric Clinic. Clinical Center of Kosovo. Prishtina. Republic of Kosovo. Tel.: +377 44 161538. E-mail: m_besart@ 123456hotmail.com
                Article
                Publisher ID: MA-70-232
                DOI: 10.5455/medarh.2016.70.232-234
                PMC ID: 5010061
                SO-VID: c79b57cc-4a6f-4d01-b51b-61279b7d3a01
                Copyright © Copyright: © 2016 Lidvana Spahiu, Besart Merovci, Haki Jashari, Arbnore Batalli Këpuska, and Blerta Elezi Rugova
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 05 March 2016
                Date accepted : 20 April 2016
                Categories
                Subject: Case Report

                Keywords: congenital nephrotic syndrome,cns,congenital nephrotic syndrome-finnish type,nphs1
                Data availability:
                Keywords: congenital nephrotic syndrome, cns, congenital nephrotic syndrome-finnish type, nphs1

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