A long-term follow-up of an Imerslund-Grasbeck syndrome patient with proteinuria
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Demir, Turgay Ulas, Muharrem Ingec, Mehmet Horoz" "autores" => array:5 [ 0 => array:3 [ "nombre" => "Zafer" "apellidos" => "Ercan" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "affa" ] ] ] 1 => array:4 [ "nombre" => "Mehmet E." "apellidos" => "Demir" "email" => array:1 [ 0 => "demirmehmetemin@hotmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "affb" ] ] ] 2 => array:3 [ "nombre" => "Turgay" "apellidos" => "Ulas" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "affc" ] ] ] 3 => array:3 [ "nombre" => "Muharrem" "apellidos" => "Ingec" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "affc" ] ] ] 4 => array:3 [ "nombre" => "Mehmet" "apellidos" => "Horoz" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "affb" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Department of Nephrology, Yildirim Beyazid Training and Research Hospital, Ankara, Turkey, " "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "affa" ] 1 => array:3 [ "entidad" => "Department of Nephrology, Harran University, School of Medicine, Sanliurfa, Turkey, " "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "affb" ] 2 => array:3 [ "entidad" => "Department of Internal Medicine, Harran University, School of Medicine, Sanliurfa, Turkey, " "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "affc" ] ] ] ] "textoCompleto" => "<p class="elsevierStylePara"><span class="elsevierStyleBold">Dear Editor,</span></p><p class="elsevierStylePara">Imerslund-Grasbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by megaloblastic anemia due to selective vitamin B<span class="elsevierStyleInf">12</span> malabsorption and asymptomatic proteinuria.<span class="elsevierStyleSup">1</span> IGS occurs in the first 1-2 years of the life and megalablostic anemia is responsive to parenteral vitamin B<span class="elsevierStyleInf">12</span> treatment.<span class="elsevierStyleSup">2</span> It is thought that proteinuria is benign in IGS; however, there is no sufficient number of follow-up series in IGS.</p><p class="elsevierStylePara"> </p><p class="elsevierStylePara"><span class="elsevierStyleBold">CASE REPORT</span></p><p class="elsevierStylePara"> </p><p class="elsevierStylePara">A 22-year-old woman had been referred to our pediatric outpatient clinic with the complaints of pale skin, loss of appetite, ataxia and diarrhea-constipation periods when she was 2-year-old. The clinical examination and laboratory studies revealed pallor of conjunctiva, megaloblastic anemia with vitamin B12 deficiency (serum vitamin B<span class="elsevierStyleInf">12</span> level <150pg/ml, hemoglobin: 6.5g/dl, MCV: 104fl and peripheral blood smear with hypersegmented neutrophils) and mild proteinuria (less than 0.5g/day) with absence of kidney function abnormality. Two renal biopsies were performed because of persistent proteinuria, however, there was no remarkable histologically changes. She was diagnosed with IGS in the light of this clinical picture. Anemia and neurological symptoms were improved with vitamin B12 therapy in the next few weeks. Mild proteinuria remains persist with normal kidney function and she is being still followed-up with periodically for proteinuria.</p><p class="elsevierStylePara">IGS was firstly described in 1960 by Olga Imerslund and more than 300 cases have been published to date. In IGS, vitamin B<span class="elsevierStyleInf">12</span> is completely abolished and if untreated with parenteral therapy the disease is fatal. A recent study revealed a biallelic mutation either in cubulin or amnions less genes cause IGS.<span class="elsevierStyleSup">3</span> Both proteins act as a receptor for intrinsic factor-vitamin B<span class="elsevierStyleInf">12</span> complexes as well as cubulin is an albumin binding protein important for renal tubular albumine reabsorption.<span class="elsevierStyleSup">4</span> Because of absence of glomerular damage in kidney biopsies progressive kidney disease is not usual. Broch et al enrolled 14 patients to a long term follow-up study and exhibited no deterioration in kidney function.<span class="elsevierStyleSup">5</span> Limited numbers of cases have been observed almost 50 years and renal prognosis is excellent. We aimed to announce our case with IGS who has a good renal prognosis over 20 years follow-up.</p><p class="elsevierStylePara"> </p><p class="elsevierStylePara"><span class="elsevierStyleBold">Conflict of interest<br></br></span> <br></br>The authors declare that there is no conflict of interest associated with this manuscript.</p>" "pdfFichero" => "P1-E547-S3873-A11661-EN.pdf" "tienePdf" => true "bibliografia" => array:2 [ "titulo" => "Bibliography" "seccion" => array:1 [ 0 => array:1 [ "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib1" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:3 [ "referenciaCompleta" => "Imerslund O. Idiopathic chronic megaloblastic anemia in children. Acta Paediatr Suppl 1960;49(Suppl 119):1-115. <a href="http://www.ncbi.nlm.nih.gov/pubmed/13852753" target="_blank">[Pubmed]</a>" "contribucion" => array:1 [ 0 => null ] "host" => array:1 [ 0 => null ] ] ] ] 1 => array:3 [ "identificador" => "bib2" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:3 [ "referenciaCompleta" => "Bonfin C, Strapasson E, Dellê LA, Malvezzi M, Moreira VA, Netto AG, et al. [Imerslund-Gräsbeck syndrome: report of two cases]. J Pediatr (Rio J) 1999;75(6):477-80." "contribucion" => array:1 [ 0 => null ] "host" => array:1 [ 0 => null ] ] ] ] 2 => array:3 [ "identificador" => "bib3" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:3 [ "referenciaCompleta" => "Fyfe JC, Madsen M, Højrup P, Christensen EI, Tanner SM, de la Chapelle A, et al. The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. Blood 2004;103(5):1573-9. <a href="http://www.ncbi.nlm.nih.gov/pubmed/14576052" target="_blank">[Pubmed]</a>" "contribucion" => array:1 [ 0 => null ] "host" => array:1 [ 0 => null ] ] ] ] 3 => array:3 [ "identificador" => "bib4" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:3 [ "referenciaCompleta" => "Birn H, Fyfe JC, Jacobsen C, Mounier F, Verroust PJ, Orskov H, et al. Cubilin is an albumin binding protein important for renal tubular albumin reabsorption. J Clin Invest 2000;105(10):1353-61. <a href="http://www.ncbi.nlm.nih.gov/pubmed/10811843" target="_blank">[Pubmed]</a>" "contribucion" => array:1 [ 0 => null ] "host" => array:1 [ 0 => null ] ] ] ] 4 => array:3 [ "identificador" => "bib5" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:3 [ "referenciaCompleta" => "Broch H, Imerslund O, Monn E, Hovig T, Seip M. Imerslund-Gräsbeck\u{A0}anemia. A\u{A0}long-term follow-up study. Acta Paediatr Scand 1984;73(2):248-53. <a href="http://www.ncbi.nlm.nih.gov/pubmed/6741523" target="_blank">[Pubmed]</a>" "contribucion" => array:1 [ 0 => null ] "host" => array:1 [ 0 => null ] ] ] ] 5 => array:3 [ "identificador" => "bib6" "etiqueta" => "6" "referencia" => array:1 [ 0 => array:3 [ "referenciaCompleta" => "\u{A0}" "contribucion" => array:1 [ 0 => null ] "host" => array:1 [ 0 => null ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/20132514/0000003300000001/v0_201502091555/X2013251413002450/v0_201502091556/en/main.assets" "Apartado" => array:4 [ "identificador" => "35437" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Letters to the Editor - Brief Case Reports" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/20132514/0000003300000001/v0_201502091555/X2013251413002450/v0_201502091556/en/P1-E547-S3873-A11661-EN.pdf?idApp=UINPBA000064&text.app=https://revistanefrologia.com/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/X2013251413002450?idApp=UINPBA000064" ]
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