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    "textoCompleto" => "<p class="elsevierStylePara">Familial steroid-resistant nephrotic syndrome &#40;SRNS&#41;&#44; also known as nephrotic syndrome&#44; type 2 is defined as early onset proteinuria in childhood with hypoalbuminemia&#44; hyperlipidemia&#44; and edema that rapidly progress to end stage renal disease &#40;ESRD&#41;&#44; not respond to steroid therapy&#46; The syndrome is mostly observed between three months and five years of age&#44;<span class="elsevierStyleSup">1&#44;2</span> while often progresses to chronic kidney disease &#40;CKD&#41; requiring dialysis&#46;<span class="elsevierStyleSup">3</span></p><p class="elsevierStylePara">Familial SRNS is an autosomal recessive disorder&#44; caused by mutations in the <span class="elsevierStyleItalic">NPHS2</span> gene &#40;<span class="elsevierStyleItalic">PODOCIN</span>&#41;&#44; encodes podocin that contribute in stabilization of slit diaphragm assembly&#44; the structural and functional integrity that for normal glomerular permeability is essential&#46;<span class="elsevierStyleSup">2&#44;4</span></p><p class="elsevierStylePara">Herein&#44; an Iranian family is presented here with three affected children with nephritic syndrome &#40;Figure 1&#41;&#46; An 8-years old boy &#40;P1&#41; was referred to the Children&#8217; Medical Center Hospital &#40;Tehran&#44; Iran&#41;&#44; with ESRD at the age of 8 years&#46; There was history of death due to ESRD in his sibling&#46; His sister &#40;P2&#41; had suffered from generalized edema since 8-month old&#46; Urine analysis showed protein of 7&#46;5g&#47;dL and RBC of 8-10&#46; Ultrasonography and DMSA showed single right kidney&#46; Kidney biopsy indicated diffuse mesangial sclerosis &#40;Figure 2&#41;&#46; She was resistant to therapy and developed ESRD in 6<span class="elsevierStyleSup">th</span> year of life and subsequently died 5 months later&#46;</p><p class="elsevierStylePara">The index case &#40;P1&#41; had history of hospital admission because of anasarca edema at the age of 3 years&#46; Urine analysis yielded protein of 1960mg&#47;day&#44; creatinine &#40;Cr&#41; of 128mg&#47;mg and microscopic hematuria&#46; Serum Cr level was 0&#46;4mg&#47;dL&#44; GFR of 134mL&#47;min&#47;1&#46;73&#44; serum total protein of 3&#46;68g&#47;dL&#44; and serum albumin of 1&#46;69g&#47;dL&#46; Hypercholesterolemia &#40;Chol&#61;590mg&#47;dL&#41; and hypertriglyceridemia &#40;TG&#61;670mg&#47;dL&#41; were also detected&#46; Although 2mg&#47;kg prednisolone had been advised for the patient&#44; he did not use it regularly&#46; Therefore he was admitted with hypocalcaemia&#44; laryngospasm and hypertension due to ESRD&#46; He was put on hemodialysis&#44; but he developed sagittal sinus thrombosis after 8 months&#59; anticoagulant was started&#44; but unfortunately he experienced intractable seizure after one month and subsequently died&#46;</p><p class="elsevierStylePara">Six months after admission of P1 at our hospital&#44; his cousin was also referred to our hospital with ESRD&#46; She was diagnosed with nephrotic syndrome since 2 years prior to admission&#46; She was manifested with generalized edema&#44; vomiting and diarrhea&#46; Urinalysis revealed protein 1&#46;6g&#47;d&#44; RBC&#58; Many&#46; BUN was 5mg&#47;dL&#44; Cr level was 0&#46;2mg&#47;dL&#44; total protein&#58; 4&#46;6g&#47;dL&#44; albumin&#58; 1&#46;5g&#47;dL&#44; Chol&#58; 591mg&#47;dL&#44; and TG&#58; 1&#44;374mg&#47;dL&#46; Steroid and cyclophosphamide were advised&#44; but she did not respond&#59; her family did not comply with further medications&#46; Kidney biopsy showed FSGS changes &#40;Figure 2&#41;&#46; She underwent hemodialysis for 6 months&#44; but unfortunately she died because of sepsis in 5th year of life&#46;</p><p class="elsevierStylePara">As of strong family history of nephritic syndrome&#44; genetic tests were done on P1 and P3&#46; The exons and flanking intronic regions of the genes &#91;<span class="elsevierStyleItalic">NPHS2</span> exons 1-8 and <span class="elsevierStyleItalic">PLCE1</span> exons 2-32&#93; were amplified by PCR&#46; PCR amplicons were purified and subjected to direct sequencing using an automated capillary sequencer&#46; Sequences were compared to the reference sequences deposited in the public database &#40;NCBI&#41;&#46; In the sample derived from two affected cousins of the family homozygosity for two sequence changes of the gene <span class="elsevierStyleItalic">NPHS2</span> was demonstrated&#46; Direct sequencing of all 8 exons of the <span class="elsevierStyleItalic">NPHS2</span> &#40;Podocin&#41; gene have been performed for the index case&#46; In exon 4 of the <span class="elsevierStyleItalic">NPHS2</span> gene&#44; c&#46;503G&#62;A X R168H homozygous mutation was found &#40;Figure 1&#41;&#46; Both parents of index case were heterozygous carrier with the same mutation compatible with recessive inheritance&#46; These findings confirm the diagnosis of familial SRNS in this family&#46;</p><p class="elsevierStylePara">The <span class="elsevierStyleItalic">NPHS2 </span>gene mutation leads to a variant of nephrotic syndrome that does not respond to steroid therapy&#44; SRNS&#46;<span class="elsevierStyleSup">4</span> Lack of effective treatment and poor prognosis of chronic renal insufficiency and ESRD&#44; make SRNS a significant therapeutic dilemma for pediatricians and pediatric-nephrologists&#46;<span class="elsevierStyleSup">5</span> In this study&#44; an Iranian family of SRNS with 3 affected children was reported in which<span class="elsevierStyleItalic"> NPHS2</span> gene has been detected&#46; This mutation has been defined previously&#46;<span class="elsevierStyleSup">6</span> It is the first report of such mutation in an Iranian family&#46; The <span class="elsevierStyleItalic">NPHS2</span> allele harbouring these two variations in cis has repeatedly been found in patients with idiopathic nephrotic syndrome&#44; particularly in the Turkish population&#46;<span class="elsevierStyleSup">4&#44;7</span></p><p class="elsevierStylePara">Histopathologic findings showed diffuse mesangial proliferation or minimal change lesions in the early phase and focal segmental glomerulonephritis&#44; in the last phase of the disease&#46; IgM and C3 deposits or both were described&#46;<span class="elsevierStyleSup">1&#44;8</span></p><p class="elsevierStylePara">These patients are mostly at risk of complications such as edema&#44; infections&#44; thromboembolic events&#44; malnutrition&#44; anemia&#44; endocrine abnormalities&#44; acute renal failure&#44; hypertension&#44; and impaired growth&#46;<span class="elsevierStyleSup">5</span></p><p class="elsevierStylePara">For making a suitable therapeutic approach and avoiding unnecessary steroid therapy as well as prenatal diagnosis and selecting an unaffected living donor&#44; genetic analysis for detecting possible podocin mutations is beneficial&#46;<span class="elsevierStyleSup">8</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Conflict of interest<br></br>&#160;<br></br><br></br></span></p><p class="elsevierStylePara">The authors declare that there is no conflict of interest associated with this manuscript&#46;</p><p class="elsevierStylePara"><a href="grande&#47;11428&#95;16025&#95;32112&#95;en&#95;f1&#95;11428&#46;jpg" class="elsevierStyleCrossRefs"><img src="11428_16025_32112_en_f1_11428.jpg" alt="The pedigree of the family with familial steroid-resistant nephrotic syndrome"></img></a></p><p class="elsevierStylePara">Figure 1&#46; The pedigree of the family with familial steroid-resistant nephrotic syndrome</p><p class="elsevierStylePara"><a href="grande&#47;11428&#95;16025&#95;32983&#95;en&#95;f2&#95;11428&#46;jpg" class="elsevierStyleCrossRefs"><img src="11428_16025_32983_en_f2_11428.jpg" alt="Renal biopsies of both cases shows segmental glomerular sclerosis and interstitial fibrosis with mild tubular dilatation &#40;Trichrome staining&#44; 400X&#41;"></img></a></p><p class="elsevierStylePara">Figure 2&#46; Renal biopsies of both cases shows segmental glomerular sclerosis and interstitial fibrosis with mild tubular dilatation &#40;Trichrome staining&#44; 400X&#41;</p>"
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                  "referenciaCompleta" => "5.\u{A0}McBryde KD, Kershaw DB, Smoyer WE. Pediatric steroid-resistant nephrotic syndrome. Curr Probl Pediatr Adolesc Health Care 2001;31(9):280-307. <a href="http://www.ncbi.nlm.nih.gov/pubmed/11733743" target="_blank">[Pubmed]</a>"
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                  "referenciaCompleta" => "7.\u{A0}Berdeli A, Mir S, Yavascan O, Serdaroglu E, Bak M, Aksu N, et al. NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. Pediatr Nephrol 2007;22(12):2031-40. <a href="http://www.ncbi.nlm.nih.gov/pubmed/17899208" target="_blank">[Pubmed]</a>"
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