Etiology of Renal Tubulopathy in Iranian Children-A Nationwide Survey
Journal of Pediatric Nephrology,
Vol. 5 No. 3 (2017),
,
Page 1-8
https://doi.org/10.22037/jpn.v5i3.20902
Abstract
Introduction: Inherited and acquired renal tubular disorders including cystic Kidney disease, cystinosis, Bartter’s syndrome, Liddle syndrome, Gordon syndrome, nephrogenic diabetes insipidus, and drug-induced tubular injury are the frequent causes of end stage renal disease (ESRD) in children manifesting with chronic kidney disease (CKD). This is a report of the etiology and incidence of tubulopathies in a cohort of Iranian children across the country.
Materials and Methods: This descriptive observational study was conducted from March 2013 to October 2013. A list of tubulopathy disorders was emailed to 70 members of the Iranian Society of Pediatric Nephrology in different provinces of Iran practicing in both university affiliated and non-affiliated hospitals. They were requested to report the number of patients with specific International Classification of Disease (ICD-10) codes admitted to their hospitals between 2006 and 2013. Data are presented as numbers and percentages.
Results: Of 31 participating centers, 23 completed and returned the spreadsheets. Of the 2940 reported cases,the three most frequent tubulopathies were renal tubular acidosis (RTA) (33%), calcium disorders (27%), and cystic diseases (17%). Considering Tehran and Shiraz as referral centers, RTA and cystinosis were mostly reported from Kermanand Urmia, respectively. Furthermore, idiopathic hypercalciuria, cystinuria, and hyperoxaluria were the most common causes of hereditary kidney stone in 281 children reported from Bandarabas, Tabriz, and Shiraz, respectively
Conclusions: Our findings regarding the high incidence and different etiologies of inherited tubulopathies may provide a basis for designing targeted therapeutic interventions in the future and strategies for gene therapy of these complex disorders.
Keywords: Kidney Tubules; Disease; Acidosis; Renal Tubule; Kidney disease; Cyst; Diabetes Insipidus; Urolithiasis; Bartter syndrome.
How to Cite
References
Mejía N, Santos F, Claverie-Martín F, García-Nieto V, Ariceta G, CastañoL;RenalTube group.. RenalTube: a network tool for clinical and genetic diagnosis of primary tubulopathies. Eur J Pediatr. 2013 Jun;172(6):775-80. doi:10.1007/s00431-013-1934-6. Epub 2013 Feb 7. PubMed PMID:23389821.
Khosravi M, Walsh SB. The long-term complications of the inherited tubulopathies: an adult perspective. PediatrNephrol. 2015;30(3):385-95. doi: 10.1007/s00467-014-2779-6. Epub 2014 Feb 25. Review. PubMed PMID: 24566812.
Hooman N, Esfahani ST, Mohkam M, Derakhshan A, Gheissari A, VazirianS,Mortazavi F, Ghane-Sherbaff F, Falak-Aflaki B, Otoukesh H, Madani A, Sharifian-Dorcheh M, Mahdavi A, Esmaeile M, Naseri M, Azhir A, Merikhi A, Mohseni P, Ataei N, Fallahzadeh MH, Basiratnia M, Hosseini-Al-Hashemi G. The outcome of Iranian children on continuous ambulatory peritoneal dialysis: the first report of Iranian National Registry. Arch Iran Med. 2009 Jan;12(1):24-8. PubMed PMID: 19111025.
Mortazavi F, Rafiee A, 2010. Etiology of Pediatric Chronic Kidney Diseases in North-West of Iran. Pakistan Journal of Biological Sciences, 13: 456-459. DOI:10.3923/pjbs.2010.456.459.
Gheissari A, Harandavar M, Hildebrandt F, Braun DA, Sedghi M, Parsi N, Merrikhi A, Madihi Y, Aghamohammadi F. Gene mutation analysis in Iranian children with nephronophthisis: a two-center study. Iran J Kidney Dis. 2015 Mar;9(2):119-25. PubMed PMID: 25851290.
Haghighi A, Savaj S, Haghighi-Kakhki H, Benoit V, Grisart B, Dahan K. Identification of an NPHP1 deletion causing adult form nephronophthisis. Ir J Med Sci. 2016;185(3):589-95. doi: 10.1007/s11845-015-1312-7. Epub 2015 Jun 4.PubMed PMID: 26037636.
Haghighi A, Al-Hamed M, Al-Hissi S, Hynes AM, Sharifian M, Roozbeh J, Saleh-Gohari N, Sayer JA. Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family. NDT Plus. 2011 Dec;4(6):421-3. doi: 10.1093/ndtplus/sfr096. Epub 2011 Aug 18. PubMed PMID: 25984213; PubMed Central PMCID: PMC4421651.
Hafizi A, Khatami SR, Galehdari H, Shariati G, Saberi AH, Hamid M. Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease. Iran Biomed J. 2014 Jul;18(3):143-50. PubMed PMID: 24842140;PubMed Central PMCID: PMC4048478.
Radpour R, Haghighi MM, Ohadi M, Broumand B, Najmabadi H, AsgharHagibeigi A. Molecular Study of Pkd1 & Pkd2 Genes By Linkage Analysis And Determining The Genotype iphenotype Correlations In Several Iranian Families With Autosomal Dominant Polycystic Kidney Disease. Medical Journal of the Islamic Republic of lran. MIIRI, 2005;19(1):65-75.
AkhavanSepahiM, Saghafi H, Mousavi Movahed SM, Haeri MR, Shokrollahi SMR, Hakimelahi J, Movahedi Z, Houshmand M, Gharehbeglou M. An Investigation on Linkage Analysis in Autosomal Dominant Polycystic Kidney Patients in Qom Province in 2014. Bimonthly Journal of Sabzevar University of Medical Sciences 2015;22(5):740-747.
JabbarpourBonyadi M; Emamalizadeh; Argani H; Omrani O; Association analysis of autosomal dominant polycystic kidney disease in familial type in East-Azerbaijan. Medical Journal of Tabriz University of Medical Sciences and Health Services. 2007; 29(2);31-37.
Entezam M, Khatami MR, Saddadi F, Ayati M, Roozbeh J, Keramatipour M. PKD2 mutation in an Iranian autosomal dominant polycystic kidney disease family with misleading linkage analysis data. Kidney Res ClinPract. 2016 Jun;35(2):96-101.doi: 10.1016/j.krcp.2016.02.003. Epub 2016 Feb 27. PubMed PMID: 27366664; PubMed Central PMCID: PMC4919558.
Vazifehmand R, Rossetti S, Saber S, Khorshid HR, Harris PC. Molecular analysis of a consanguineous Iranian polycystic kidney disease family identifies a PKD2 mutation that aids diagnostics. BMC Nephrol. 2013 Sep 8;14:190. doi:10.1186/1471-2369-14-190. PubMed PMID: 24011172; PubMed Central PMCID:PMC3846117.
Ghadami M, Tomita HA, Najafi MT, Damavandi E, Farahvash MS, Yamada K, Majidzadeh-A K, Niikawa N. Bardet-Biedl syndrome type 3 in an Iranian family:clinical study and confirmation of disease localization. Am J Med Genet. 2000 Oct 23;94(5):433-7. PubMed PMID: 11050632.
Markazi S, Kheirollahi M, Doosti A, Mohammadi M, Koulivand L. A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria. Iran J Kidney Dis. 2016 Jan;10(1):44-7. PubMed PMID: 26837681.
Koulivand L, Mohammadi M, Ezatpour B, Salehi R, Markazi S, DashtiS,Kheirollahi M. Mutation analysis of SLC3A1 and SLC7A9 genes in patients withcystinuria. Urolithiasis. 2015 Oct;43(5):447-53. doi: 10.1007/s00240-015-0794-0.Epub 2015 Jun 30. PubMed PMID: 26123750.
Markazi S, Kheirollahi M, Doosti A, Mohammadi M. Report of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study. J Res Med Sci2017;22:33.
Fazaeli S, Ashouri S, Kheirollahi M, Mohammadi M, Fazilati M. A Novel Mutation in SLC7A9 Gene in Cystinuria. Iran J Kidney Dis. 2017 Mar;11(2):138-141. PubMed PMID: 28270646.
Zeinali F, Mohseni M, Fadaee M, Fattahi Z, Najmabadi H, Otukesh H, KahriziK.Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families. J Laryngol Otol. 2014 Dec;128(12):1056-9. doi: 10.1017/S0022215114002540. PubMed PMID:25498251.
Sharifian M, Esfandiar N, Mazaheri S, Kariminejad A, Mohkam M, Dalirani R, Esmaili R, Ahmadi M, Hassas-Yeganeh M. Distal renal tubular acidosis and its relationship with hearing loss in children: preliminary report. Iran J Kidney Dis. 2010 Jul;4(3):202-6. PubMed PMID: 20622307.
Hooman N, Otukesh H, Fazilaty H, Torktaz I, Hosseini R, Behnam B. A novel mutation pattern of kidney anion exchanger 1 gene in patients with distal renaltubular acidosis in Iran. Iran J Kidney Dis. 2015 May;9(3):230-8. PubMed PMID:25957428.
Abbasi F, Azizi F, Javaheri M, Mosallanejad A, Ebrahim-Habibi A, Ghafouri-Fard S. Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family. Gene. 2015 Feb 15;557(1):103-5. doi:10.1016/j.gene.2014.12.024. Epub 2014 Dec 15. PubMed PMID: 25523092.
Hadipour F, Sarkheil P, Noruzinia M, Hadipour Z, Baghdadi T, Shafeghati Y. FanconiBickel syndrome versus osteogenesisimperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature. Indian J Hum Genet. 2013 JanMar; 19(1): 84–86. doi: 10.4103/09716866.112906.
Shahkarami S, Galehdari H, Ahmadzadeh A, Babaahmadi M, Pedram M. The first molecular genetics analysis of individuals suffering from nephropaticcystinosis in the Southwestern Iran. Nefrologia. 2013;33(3):308-15. doi: 10.3265/Nefrologia.pre2012.Sep.11558. Epub 2013 Feb 15. PubMed PMID:23640116.
Ghazi F, Hosseini R, Akouchekian M, Teimourian S, AtaeiKachoei Z, Otukesh H, Gahl WA, Behnam B. CTNS molecular genetics profile in a Persian nephropathiccystinosis population. Nefrologia. 2017 Feb 23. pii: S0211-6995(17)30006-1. doi: 10.1016/j.nefro.2016.11.024. [Epub ahead of print] English, Spanish. PubMed PMID:28238446.
Sobhani M, Tabatabaiefar MA, Rajab A, Kajbafzadeh AM, Noori-Daloii MR. Molecular characterization of WFS1 in an Iranian family with Wolfram syndrome reveals a novel frameshift mutation associated with early symptoms. Gene. 2013 Oct 10;528(2):309-13. doi: 10.1016/j.gene.2013.06.040. Epub 2013 Jul 8. PubMed PMID: 23845777.
Alimadadi A, Ebrahim-Habibi A, Abbasi F, Amoli M, Sayahpour FA, LarijaniB.Novel mutations of wolframin: a report with a look at the protein structure. Clin Genet. 2011 Jan;79(1):96-9. doi: 10.1111/j.1399-0004.2010.01511.x. PubMed PMID:21143470.
Palazzo V, Provenzano A, Becherucci F, Sansavini G, Mazzinghi B, Orlandini V, Giunti L, Roperto RM, Pantaleo M, Artuso R, Andreucci E, Bargiacchi S, Traficante G, Stagi S, Murer L, Benetti E, Emma F, Giordano M, Rivieri F, Colussi G, Penco S, Manfredini E, Caruso MR, Garavelli L, Andrulli S, Vergine G, Miglietti N, Mancini E, Malaventura C, Percesepe A, Grosso E, Materassi M, Romagnani P, Giglio S. The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. Kidney Int. 2017 May;91(5):1243-1255. doi: 10.1016/j.kint.2016.12.017. Epub 2017 Feb 21. PubMed PMID: 28233610.
Ahmad-Zadeh A. Renal tubular acidosis in children: Report of 25 cases from Ahwaz Scientific Medical Journal of Ahwaz University of Medical Sciences 1378;(26):66-76.
Mortazavi F, Ghergherehchi R. Causes of Nephrocalcinosis in Children Referring To Children's Hospital of Tabriz. Urmia Medical Journal 1391; 23(2): 172-177.
Basiratnia M. Cystinosis Patient Day in Iran. J Ped. Nephrology 2014;2(3):104-106.
Hosseini S, Kalantar E. Measurement of Cystine in PMN Cells by Liquid Chromatography –Tandem Mass Spectrometry. J Ped. Nephrology, Suppl1: 2013;10.
Bertholet-Thomas A, Berthiller J, Tasic V, Kassai B, Otukesh H, Greco M,Ehrich J, de Paula Bernardes R, Deschênes G, Hulton SA, Fischbach M, SoulamiK,Saeed B, Valavi E, Cobenas CJ, Hacihamdioglu B, Weiler G, Cochat P, Bacchetta J. Worldwide view of nephropathiccystinosis: results from a survey from 30 countries. BMC Nephrol. 2017 Jul 3;18(1):210. doi: 10.1186/s12882-017-0633-3. PubMed PMID: 28673276; PubMed Central PMCID: PMC5496396.
Parfrey PS, Davidson WS, Green JS. Clinical and genetic epidemiology of inherited renal disease in Newfoundland. Kidney Int. 2002 Jun;61(6):1925-34. Review. PubMed PMID: 12028433.
Ebner K, Schaefer F, Liebau MC; ARegPKD Consortium. Recent Progress of the ARegPKD Registry Study on Autosomal Recessive Polycystic Kidney Disease. Front Pediatr. 2017;16(5):18. doi: 10.3389/fped.2017.00018. eCollection 2017. PubMed PMID: 28296980; PubMed Central PMCID: PMC5327862.
Nafar M, Mousavi SM, Mahdavi-Mazdeh M, Pour-Reza-Gholi F, Firoozan A, Einollahi B, Lessan-Pezeshki ML, Asbaghi-Namini S, Farrokhi F. Burden of chronic kidney disease in Iran: a screening program is of essential need. Iran J Kidney Dis. 2008 Oct;2(4):183-92. PubMed PMID: 19377235.
Kheradpir MH, Bodaghi E. Childhood urolithiasis in Iran with special reference to staghorn calculi. Urol Int. 1990;45(2):99-103. PubMed PMID: 2330666.
Sepahi MA, Heidari A, Shajari A. Clinical manifestations and etiology of renal stones in children less than 14 years age. Saudi J Kidney Dis Transpl2010;21:181-4.
Naseri M, Varasteh AR, Alamdaran SA. Metabolic factors associated with urinary calculi in children. Iran J Kidney Dis. 2010 Jan;4(1):32-8. PubMed PMID:20081302.
SafaeiAsl A, Maleknejad S. Pediatric urolithiasis: an experience of a single center. Iran J Kidney Dis. 2011 Sep;5(5):309-13. PubMed PMID: 21876306.
Mohammadjafari H, Barzin M, Salehifar E, KhademiKord M, Aalaee A, Mohammadjafari R. Etiologic and epidemiologic pattern of urolithiasis in north iran;review of 10-year findings. Iran J Pediatr. 2014 Feb;24(1):69-74. Epub 2014 Jan 1. PubMed PMID: 25793048; PubMed Central PMCID: PMC4359607.
Koulivand L, Mohammadi M, Ezatpour B, Kheirollahi M. Cystinuria in a patient with a novel mutation in SLC7A9 gene. Iran J Kidney Dis. 2015 Jan;9(1):63-6. PubMed PMID: 25599739.
Hooman N. Acute Kidney Injury in Iranian Children -What Do We Know About It? - Part 2. J Ped. Nephrology 2014;2(3):98-103.
Koochak A, Babaheidarian P, Hooman N, Mehrazma M. Clinicopathological Findings in Pediatric Tubulointerstitial Nephritis: Iranian Experience. J Ped. Nephrology 2015;3(4):139-142.
ArjmandiKh.,Hooman N. , Vossough P. Evaluation Of Renal Proximal Tubular Function In Children Undergoing Chemotherapy In Ali AsgharChildrens Hospital. The Razi Journal of Medical Sciences 1386;14(55): 197-205.
Zareifar S, Jafari H, Geramizadeh B, Basiratnia M, Golafshan H, Cohan N,Mehravar Z, Hamidi R. The evaluation of cisplatin effect on tubular function in children on chemotherapy. PediatrHematolOncol. 2013;30(1):18-24.
doi: 10.3109/08880018.2012.737093. Epub 2012 Nov 19. PubMed PMID: 23163346.
Naderi M, Sadeghi-Bojd S, Valeshabad AK, Jahantigh A, Alizadeh S, Dorgalaleh A, Tabibian S, Bamedi T. A prospective study of tubular dysfunction in pediatric patients with Beta thalassemia major receiving deferasirox. PediatrHematolOncol. 2013Nov;30(8):748-54. doi: 10.3109/08880018.2013.823470. PubMed PMID: 24134694.
Devuyst O, Knoers NV, Remuzzi G, Schaefer F; Board of the Working Group for Inherited Kidney Diseases of the European Renal Association and European Dialysis and Transplant Association. Rare inherited kidney diseases: challenges,opportunities, and perspectives. Lancet. 2014 May 24;383(9931):1844-59. doi:10.1016/S0140-6736(14)60659-0. Review. PubMed PMID: 24856029; PubMed Central PMCID: PMC4135047.
Hooman N, Derakhshan A,Javadilarijani F, Mortazavi F, Falakaflaki B,Sadeghi-Bojd S, Nikibakhsh AA, Esteghamati M, Ghassemi K, Mohkam M, Ghaneh- Sherbaf F,Ghazanfari F, Sorkhi H,Safaiyan B, Yousefichaijan P, Kajbafzadeh A, Safaei-Asl A, Shakiba M, Shajari A, Valavi E, Sharif MR ,Akhavan-Sepahi M, Momtaz HE, Eskandarifar AR , GhasemiKh, Iranian Society of Pediatric Nephrology. The Etiology of Tubulopathy in Iranian Children- Iranian Society of Pediatric Nephrology Collaboration. J Ped. Nephrology 2013; Sup1(1):2.
- Abstract Viewed: 601 times
- PDF Downloaded: 322 times