Journal Watch

Renal malformations and ciliopathies

CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.
Author(s): Mann N, Kause F, Henze EK, Gharpure A, Shril S, Connaughton DM, Nakayama M, Klämbt V, Majmundar AJ, Wu CW, Kolvenbach CM, Dai R, Chen J, van der Ven AT, Ityel H, Tooley MJ, Kari JA, Bownass L, El Desoky S, De Franco E, Shalaby M, Tasic V, Bauer SB, Lee RS, Beckel JM, Yu W, Mane SM, Lifton RP, Reutter H, Ellard S, Hibbs RE, Kawate T, Hildebrandt F
Source: Am J Hum Genet 2019 Oct 31;
Publication date: 2019-10-31
Alterations of Proximal Tubular Secretion in Autosomal Dominant Polycystic Kidney Disease.
Author(s): Wang K, Zelnick LR, Chen Y, Hoofnagle AN, Watnick T, Seliger S, Kestenbaum B
Source: Clin J Am Soc Nephrol 2019 Oct 18;
Publication date: 2019-10-18
Imaging surveillance for children with predisposition to renal tumors.
Author(s): Srinivasan AS, Saade-Lemus S, Servaes SE, Acord MR, Reid JR, Anupindi SA, States LJ
Source: Pediatr Radiol 2019 Oct;49(11):1453-1462
Publication date: 2019-10
Medullary Sponge Kidney: Current Perspectives.
Author(s): Imam TH, Patail H, Patail H
Source: Int J Nephrol Renovasc Dis 2019;12:213-218
Publication date: 2019
Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland.
Author(s): Cormican S, Connaughton DM, Kennedy C, Murray S, Živná M, Kmoch S, Fennelly NK, O'Kelly P, Benson KA, Conlon ET, Cavalleri G, Foley C, Doyle B, Dorman A, Little MA, Lavin P, Kidd K, Bleyer AJ, Conlon PJ
Source: Ren Fail 2019 Nov;41(1):832-841
Publication date: 2019-11
Prenatal diagnosis of HNF1B-associated renal cysts: Need to differentiate intragenic variants from 17q 12 microdeletion syndrome?
Author(s): Vasileiou G, Hoyer J, Thiel CT, Schaefer J, Zapke M, Krumbiegel M, Kraus C, Zweier M, Uebe S, Ekici AB, Schneider M, Wiesener M, Rauch A, Faschingbauer F, Reis A, Zweier C, Popp B
Source: Prenat Diagn 2019 Sep 9;
Publication date: 2019-09-9
Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report.
Author(s): Herlin MK, Le VQ, Højland AT, Ernst A, Okkels H, Petersen AC, Petersen MB, Pedersen IS
Source: Hum Reprod 2019 Sep 29;34(9):1838-1846
Publication date: 2019-09-29
School level of children carrying a HNF1B variant or a deletion.
Author(s): Laliève F, Decramer S, Heidet L, Baudouin V, Lahoche A, Llanas B, Cochat P, Tenenbaum J, Lavocat MP, Eckart P, Broux F, Roussey G, Cloarec S, Vrillon I, Dunand O, Bessenay L, Tsimaratos M, Nobili F, Pietrement C, De Parscau L, Bonneville V, Rodier N, Saint-Martin C, Chassaing N, Michel-Calemard L, Moriniere V, Bellanné-Chantelot C, Bahans C, Guigonis V
Source: Eur J Hum Genet 2019 Sep 3;
Publication date: 2019-09-3
The pathobiology of polycystic kidney disease from a metabolic viewpoint.
Author(s): Menezes LF, Germino GG
Source: Nat Rev Nephrol 2019 Sep 5;
Publication date: 2019-09-5
Two infants with bilateral renal agenesis who were bridged by chronic peritoneal dialysis to kidney transplantation.
Author(s): Sheldon CR, Kim ED, Chandra P, Concepcion W, Gallo A, Su S, Grimm PC, Alexander SR, Wong CJ
Source: Pediatr Transplant 2019 Sep;23(6):e13532
Publication date: 2019-09
Blood Pressure Abnormalities Associated with Gut Microbiota-Derived Short Chain Fatty Acids in Children with Congenital Anomalies of the Kidney and Urinary Tract.
Author(s): Hsu CN, Lu PC, Hou CY, Tain YL
Source: J Clin Med 2019 Jul 24;8(8)
Publication date: 2019-07-24
Management of Hypertension in CAKUT: Protective Factor for CKD.
Author(s): Gabriele MM, Koch Nogueira PC
Source: Front Pediatr 2019;7:222
Publication date: 2019
Synergistic Genetic Interactions between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models.
Author(s): Olson RJ, Hopp K, Wells H, Smith JM, Furtado J, Constans MM, Escobar DL, Geurts AM, Torres VE, Harris PC
Source: J Am Soc Nephrol 2019 Aug 19;
Publication date: 2019-08-19
ALG9 Mutation Carriers Develop Kidney and Liver Cysts.
Author(s): Besse W, Chang AR, Luo JZ, Triffo WJ, Moore BS, Gulati A, Hartzel DN, Mane S, Torres VE, Somlo S, Mirshahi T
Source: J Am Soc Nephrol 2019 Aug 8;
Publication date: 2019-08-8
Serum magnesium, hepatocyte nuclear factor 1β genotype and post-transplant diabetes mellitus: a prospective study.
Author(s): van der Burgh AC, Moes A, Kieboom BCT, van Gelder T, Zietse R, van Schaik RHN, Hesselink DA, Hoorn EJ
Source: Nephrol Dial Transplant 2019 Jul 30;
Publication date: 2019-07-30
Presymptomatic Screening for Intracranial Aneurysms in Patients with Autosomal Dominant Polycystic Kidney Disease.
Author(s): Sanchis IM, Shukoor S, Irazabal MV, Madsen CD, Chebib FT, Hogan MC, El-Zoghby Z, Harris PC, Huston J, Brown RD, Torres VE
Source: Clin J Am Soc Nephrol 2019 Jul 30;
Publication date: 2019-07-30
Tissue-Resident Macrophages Promote Renal Cystic Disease.
Author(s): Zimmerman KA, Song CJ, Li Z, Lever JM, Crossman DK, Rains A, Aloria EJ, Gonzalez NM, Bassler JR, Zhou J, Crowley MR, Revell DZ, Yan Z, Shan D, Benveniste EN, George JF, Mrug M, Yoder BK
Source: J Am Soc Nephrol 2019 Jul 23;
Publication date: 2019-07-23
Clinical characteristics of HNF1B-related disorders in a Japanese population.
Author(s): Nagano C, Morisada N, Nozu K, Kamei K, Tanaka R, Kanda S, Shiona S, Araki Y, Ohara S, Matsumura C, Kasahara K, Mori Y, Seo A, Miura K, Washiyama M, Sugimoto K, Harada R, Tazoe S, Kourakata H, Enseki M, Aotani D, Yamada T, Sakakibara N, Yamamura T, Minamikawa S, Ishikura K, Ito S, Hattori M, Iijima K
Source: Clin Exp Nephrol 2019 May 27;
Publication date: 2019-05-27
Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD).
Author(s): Burgmaier K, Kilian S, Bammens B, Benzing T, Billing H, Büscher A, Galiano M, Grundmann F, Klaus G, Mekahli D, Michel-Calemard L, Milosevski-Lomic G, Ranchin B, Sauerstein K, Schaefer S, Shroff R, Sterenborg R, Verbeeck S, Weber LT, Wicher D, Wühl E, Dötsch J, Schaefer F, Liebau MC
Source: Sci Rep 2019 May 28;9(1):7919
Publication date: 2019-05-28
Central blood pressure and measures of early vascular disease in children with ADPKD.
Author(s): Marlais M, Rajalingam S, Gu H, Savis A, Sinha MD, Winyard PJ
Source: Pediatr Nephrol 2019 Jun 26;
Publication date: 2019-06-26
Automatic Measurement of Kidney and Liver Volumes from MR Images of Patients Affected by Autosomal Dominant Polycystic Kidney Disease.
Author(s): van Gastel MDA, Edwards ME, Torres VE, Erickson BJ, Gansevoort RT, Kline TL
Source: J Am Soc Nephrol 2019 Jul 3;
Publication date: 2019-07-3
Proteomics and metabolomics studies exploring the pathophysiology of renal dysfunction in autosomal dominant polycystic kidney disease and other ciliopathies.
Author(s): Zacchia M, Marchese E, Trani EM, Caterino M, Capolongo G, Perna A, Ruoppolo M, Capasso G
Source: Nephrol Dial Transplant 2019 Jun 20;
Publication date: 2019-06-20
Soluble Urokinase Plasminogen Activator Receptor and Decline in Kidney Function in Autosomal Dominant Polycystic Kidney Disease.
Author(s): Hayek SS, Landsittel DP, Wei C, Zeier M, Yu ASL, Torres VE, Roth S, Pao CS, Reiser J
Source: J Am Soc Nephrol 2019 Jun 6;
Publication date: 2019-06-6
Risk Assessment of Severe Congenital Anomalies of the Kidney and Urinary Tract (CAKUT): A Birth Cohort.
Author(s): Katsoufis CP, DeFreitas MJ, Infante JC, Castellan M, Cano T, Safina Vaccaro D, Seeherunvong W, Chandar JJ, Abitbol CL
Source: Front Pediatr 2019;7:182
Publication date: 2019
International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people.
Author(s): Gimpel C, Bergmann C, Bockenhauer D, Breysem L, Cadnapaphornchai MA, Cetiner M, Dudley J, Emma F, Konrad M, Harris T, Harris PC, König J, Liebau MC, Marlais M, Mekahli D, Metcalfe AM, Oh J, Perrone RD, Sinha MD, Titieni A, Torra R, Weber S, Winyard PJD, Schaefer F
Source: Nat Rev Nephrol 2019 May 22;
Publication date: 2019-05-22
Liver Involvement in Autosomal Dominant Polycystic Kidney Disease.
Author(s): Adin ME
Source: N Engl J Med 2019 May 16;380(20):1954
Publication date: 2019-05-16
A bell-shaped pattern of urinary aquaporin-2-bearing extracellular vesicle release in an experimental model of nephronophthisis.
Author(s): Mikoda N, Sonoda H, Oshikawa S, Hoshino Y, Matsuzaki T, Ikeda M
Source: Physiol Rep 2019 May;7(9):e14092
Publication date: 2019-05
Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD).
Author(s): Dudley J, Winyard P, Marlais M, Cuthell O, Harris T, Chong J, Sayer J, Gale DP, Moore L, Turner K, Burrows S, Sandford R
Source: BMC Nephrol 2019 Apr 30;20(1):148
Publication date: 2019-04-30
Autosomal dominant polycystic kidney disease: new role for ultrasound.
Author(s): İmamoğlu H, Zararsız G, Doğan S, Koçyiğit İ, Eroğlu E, Öztürk A, Erdoğan N
Source: Eur Radiol 2019 Apr 26;
Publication date: 2019-04-26
Long-term trajectory of kidney function in autosomal-dominant polycystic kidney disease.
Author(s): Yu ASL, Shen C, Landsittel DP, Grantham JJ, Cook LT, Torres VE, Chapman AB, Bae KT, Mrug M, Harris PC, Rahbari-Oskoui FF, Shi T, Bennett WM
Source: Kidney Int 2019 May;95(5):1253-1261
Publication date: 2019-05
SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.
Author(s): Kim JH, Park EY, Chitayat D, Stachura DL, Schaper J, Lindstrom K, Jewett T, Wieczorek D, Draaisma JM, Sinnema M, Hoeberigs C, Hempel M, Bachman KK, Seeley AH, Stone JK, Kong HK, Vukadin L, Richard A, Shinde DN, McWalter K, Si YC, Douglas G, Lim ST, Vissers LELM, Lemaire M, Ahn EE
Source: Kidney Int 2019 Mar 15;
Publication date: 2019-03-15
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.
Author(s): Al-Hamed MH, Alsahan N, Rice SJ, Edwards N, Nooreddeen E, Alotaibi M, Kurdi W, Alnemer M, Altaleb N, Ali W, Al-Numair N, Almejaish N, Sayer JA, Imtiaz F
Source: Pediatr Nephrol 2019 May 11;
Publication date: 2019-05-11
Growth Pattern of Kidney Cyst Number and Volume in Autosomal Dominant Polycystic Kidney Disease.
Author(s): Bae KT, Zhou W, Shen C, Landsittel DP, Wu Z, Tao C, Chapman AB, Torres VE, Yu ASL, Mrug M, Bennett WM, Harris PC
Source: Clin J Am Soc Nephrol 2019 May 14;
Publication date: 2019-05-14
Podocyte Injury in Autosomal Dominant Polycystic Kidney Disease.
Author(s): Cebeci E, Ekinci I, Gursu M, Coskun C, Karadag S, Uzun S, Behlul A, Senel TE, Kazancioglu R, Ozturk S
Source: Nephron 2019 May 22;:1-9
Publication date: 2019-05-22
Somatostatin in renal physiology and autosomal dominant polycystic kidney disease.
Author(s): Messchendorp AL, Casteleijn NF, Meijer E, Gansevoort RT
Source: Nephrol Dial Transplant 2019 Apr 27;
Publication date: 2019-04-27
Tolvaptan use in children and adolescents with autosomal dominant polycystic kidney disease: rationale and design of a two-part, randomized, double-blind, placebo-controlled trial.
Author(s): Schaefer F, Mekahli D, Emma F, Gilbert RD, Bockenhauer D, Cadnapaphornchai MA, Shi L, Dandurand A, Sikes K, Shoaf SE
Source: Eur J Pediatr 2019 May 3;
Publication date: 2019-05-3
Proteomic Analysis of Urinary Microvesicles and Exosomes in Medullary Sponge Kidney Disease and Autosomal Dominant Polycystic Kidney Disease.
Author(s): Bruschi M, Granata S, Santucci L, Candiano G, Fabris A, Antonucci N, Petretto A, Bartolucci M, Del Zotto G, Antonini F, Ghiggeri GM, Lupo A, Gambaro G, Zaza G
Source: Clin J Am Soc Nephrol 2019 Apr 24;
Publication date: 2019-04-24
Structure and function of polycystins: insights into polycystic kidney disease.
Author(s): Douguet D, Patel A, Honoré E
Source: Nat Rev Nephrol 2019 Apr 4;
Publication date: 2019-04-4
Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.
Author(s): Roberts NA, Hilton EN, Lopes FM, Singh S, Randles MJ, Gardiner NJ, Chopra K, Coletta R, Bajwa Z, Hall RJ, Yue WW, Schaefer F, Weber S, Henriksson R, Stuart HM, Hedman H, Newman WG, Woolf AS
Source: Kidney Int 2019 Mar 8;
Publication date: 2019-03-8
Urinary proteome signature of Renal Cysts and Diabetes syndrome in children.
Author(s): Ricci P, Magalhães P, Krochmal M, Pejchinovski M, Daina E, Caruso MR, Goea L, Belczacka I, Remuzzi G, Umbhauer M, Drube J, Pape L, Mischak H, Decramer S, Schaefer F, Schanstra JP, Cereghini S, Zürbig P
Source: Sci Rep 2019 Feb 18;9(1):2225
Publication date: 2019-02-18
Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institution.
Author(s): Ishiwa S, Sato M, Morisada N, Nishi K, Kanamori T, Okutsu M, Ogura M, Sako M, Kosuga M, Kamei K, Ito S, Nozu K, Iijima K, Ishikura K
Source: Pediatr Nephrol 2019 Apr 1;
Publication date: 2019-04-1
Cardiac Abnormalities in Children with Autosomal Recessive Polycystic Kidney Disease.
Author(s): Chinali M, Lucchetti L, Ricotta A, Esposito C, D'Anna C, Rinelli G, Emma F, Massella L
Source: Cardiorenal Med 2019 Mar 7;9(3):180-189
Publication date: 2019-03-7
Plasma copeptin levels predict disease progression and tolvaptan efficacy in autosomal dominant polycystic kidney disease.
Author(s): Gansevoort RT, van Gastel MDA, Chapman AB, Blais JD, Czerwiec FS, Higashihara E, Lee J, Ouyang J, Perrone RD, Stade K, Torres VE, Devuyst O
Source: Kidney Int 2019 Mar 9;
Publication date: 2019-03-9
Personalized medicine in chronic kidney disease by detection of monogenic mutations.
Author(s): Connaughton DM, Hildebrandt F
Source: Nephrol Dial Transplant 2019 Feb 26;
Publication date: 2019-02-26
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.
Author(s): Choi YJ, Halbritter J, Braun DA, Schueler M, Schapiro D, Rim JH, Nandadasa S, Choi WI, Widmeier E, Shril S, Körber F, Sethi SK, Lifton RP, Beck BB, Apte SS, Gee HY, Hildebrandt F
Source: Am J Hum Genet 2019 Jan 3;104(1):45-54
Publication date: 2019-01-3
Analysis of cilia dysfunction phenotypes in zebrafish embryos depleted of Origin recognition complex factors.
Author(s): Maerz LD, Casar Tena T, Gerhards J, Donow C, Jeggo PA, Philipp M
Source: Eur J Hum Genet 2019 Jan 29;
Publication date: 2019-01-29
Identifying patient-important outcomes in polycystic kidney disease: an international nominal group technique study.
Author(s): Cho Y, Sautenet B, Gutman T, Rangan G, Craig JC, Ong AC, Chapman A, Ahn C, Coolican H, Kao JT, Gansevoort R, Perrone RD, Harris T, Torres V, Pei Y, Kerr PG, Ryan J, Johnson DW, Viecelli AK, Geneste C, Kim H, Kim Y, Oh YK, Teixeira-Pinto A, Logeman C, Howell M, Ju A, Manera KE, Tong A
Source: Nephrology (Carlton) 2019 Jan 20;
Publication date: 2019-01-20
Increased water intake reduces long-term renal and cardiovascular disease progression in experimental polycystic kidney disease.
Author(s): Sagar PS, Zhang J, Luciuk M, Mannix C, Wong ATY, Rangan GK
Source: PLoS One 2019;14(1):e0209186
Publication date: 2019
A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation.
Author(s): Chen J, Ma N, Zhao X, Li W, Zhang Q, Yuan S, Tan YQ, Lu G, Lin G, Du J
Source: J Hum Genet 2019 Mar;64(3):207-214
Publication date: 2019-03
Prenatal ultrasonography of autosomal dominant polycystic kidney disease mimicking recessive type: case series.
Author(s): Garel J, Lefebvre M, Cassart M, Della Valle V, Guilbaud L, Jouannic JM, Ducou le Pointe H, Blondiaux E, Garel C
Source: Pediatr Radiol 2019 Jan 10;
Publication date: 2019-01-10
Chromosomal microarray analysis in fetuses with congenital anomalies of the kidney and urinary tract: A prospective cohort study and meta-analysis.
Author(s): Li S, Han X, Wang Y, Chen S, Niu J, Qian Z, Li P, Jin L, Xu C
Source: Prenat Diagn 2019 Jan 16;
Publication date: 2019-01-16
HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.
Author(s): Okorn C, Goertz A, Vester U, Beck BB, Bergmann C, Habbig S, König J, Konrad M, Müller D, Oh J, Ortiz-Brüchle N, Patzer L, Schild R, Seeman T, Staude H, Thumfart J, Tönshoff B, Walden U, Weber L, Zaniew M, Zappel H, Hoyer PF, Weber S
Source: Pediatr Nephrol 2019 Jan 21;
Publication date: 2019-01-21
Unmet needs and challenges for follow-up and treatment of autosomal dominant polycystic kidney disease: the paediatric perspective.
Author(s): De Rechter S, Bammens B, Schaefer F, Liebau MC, Mekahli D
Source: Clin Kidney J 2018 Dec;11(Suppl 1):i14-i26
Publication date: 2018-12
Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement.
Author(s): Gimpel C, Avni EF, Breysem L, Burgmaier K, Caroli A, Cetiner M, Haffner D, Hartung EA, Franke D, König J, Liebau MC, Mekahli D, Ong ACM, Pape L, Titieni A, Torra R, Winyard PJD, Schaefer F
Source: Radiology 2018 Dec 18;:181243
Publication date: 2018-12-18
The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Author(s): Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, Mitrotti A, Fasel DA, Batourina E, Sampson MG, Bodria M, Werth M, Kao C, Martino J, Capone VP, Vivante A, Shril S, Kil BH, Marasà M, Zhang JY, Na YJ, Lim TY, Ahram D, Weng PL, Heinzen EL, Carrea A, Piaggio G, Gesualdo L, Manca V, Masnata G, Gigante M, Cusi D, Izzi C, Scolari F, van Wijk JAE, Saraga M, Santoro D, Conti G, Zamboli P, White H, Drozdz D, Zachwieja K, Miklaszewska M, Tkaczyk M, Tomczyk D, Krakowska A, Sikora P, Jarmoliński T, Borszewska-Kornacka MK, Pawluch R, Szczepanska M, Adamczyk P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Dobson MG, Darlow JM, Puri P, Barton DE, Furth SL, Warady BA, Gucev Z, Lozanovski VJ, Tasic V, Pisani I, Allegri L, Rodas LM, Campistol JM, Jeanpierre C, Alam S, Casale P, Wong CS, Lin F, Miranda DM, Oliveira EA, Simões-E-Silva AC, Barasch JM, Levy B, Wu N, Hildebrandt F, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Zhang F, Hakonarson H, Papaioannou VE, Mendelsohn CL, Gharavi AG, Sanna-Cherchi S
Source: Nat Genet 2019 Jan;51(1):117-127
Publication date: 2019-01
Addressing the Need for Clinical Trial End Points in Autosomal Dominant Polycystic Kidney Disease: A Report From the Polycystic Kidney Disease Outcomes Consortium (PKDOC).
Author(s): Smith KA, Thompson AM, Baron DA, Broadbent ST, Lundstrom GH, Perrone RD
Source: Am J Kidney Dis 2018 Dec 29;
Publication date: 2018-12-29
Outcomes of kidney transplants in pediatric patients with the vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, limb abnormalities association.
Author(s): Diaz J, Chavers B, Chinnakotla S, Verghese P
Source: Pediatr Transplant 2018 Dec 30;:e13341
Publication date: 2018-12-30
Determinants of Urine Volume in ADPKD Patients Using the Vasopressin V2 Receptor Antagonist Tolvaptan.
Author(s): Kramers BJ, van Gastel MDA, Boertien WE, Meijer E, Gansevoort RT
Source: Am J Kidney Dis 2018 Dec 19;
Publication date: 2018-12-19
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.
Author(s): Nuovo S, Fuiano L, Micalizzi A, Battini R, Bertini E, Borgatti R, Caridi G, D'Arrigo S, Fazzi E, Fischetto R, Ghiggeri GM, Giordano L, Leuzzi V, Romaniello R, Signorini S, Stringini G, Zanni G, Romani M, Valente EM, Emma F
Source: Nephrol Dial Transplant 2018 Nov 6;
Publication date: 2018-11-6
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.
Author(s): Gast C, Marinaki A, Arenas-Hernandez M, Campbell S, Seaby EG, Pengelly RJ, Gale DP, Connor TM, Bunyan DJ, Hodaňová K, Živná M, Kmoch S, Ennis S, Venkat-Raman G
Source: BMC Nephrol 2018 Oct 30;19(1):301
Publication date: 2018-10-30
Autosomal Dominant Polycystic Kidney Disease: Clinical Assessment of Rapid Progression.
Author(s): Furlano M, Loscos I, Martí T, Bullich G, Ayasreh N, Rius A, Roca L, Ballarín J, Ars E, Torra R
Source: Am J Nephrol 2018;48(4):308-317
Publication date: 2018
Metformin in autosomal dominant polycystic kidney disease: experimental hypothesis or clinical fact?
Author(s): Pisani A, Riccio E, Bruzzese D, Sabbatini M
Source: BMC Nephrol 2018 Oct 22;19(1):282
Publication date: 2018-10-22
Early and Severe Polycystic Kidney Disease and Related Ciliopathies: An Emerging Field of Interest.
Author(s): Bergmann C
Source: Nephron 2018 Oct 25;:1-11
Publication date: 2018-10-25
A clinical predictive model of renal injury in children with congenital solitary functioning kidney.
Author(s): Poggiali IV, Simões E Silva AC, Vasconcelos MA, Dias CS, Gomes IR, Carvalho RA, Oliveira MCL, Pinheiro SV, Mak RH, Oliveira EA
Source: Pediatr Nephrol 2018 Oct 15;
Publication date: 2018-10-15
Con: Tolvaptan for autosomal dominant polycystic kidney disease-do we know all the answers?
Author(s): Gross P, Schirutschke H, Paliege A
Source: Nephrol Dial Transplant 2018 Oct 11;
Publication date: 2018-10-11
Pro: Tolvaptan delays the progression of autosomal dominant polycystic kidney disease.
Author(s): Torres VE
Source: Nephrol Dial Transplant 2018 Oct 12;
Publication date: 2018-10-12
Defining renal phenotype in Alström syndrome.
Author(s): Baig S, Paisey R, Dawson C, Barrett T, Maffei P, Hodson J, Rambhatla SB, Chauhan P, Bolton S, Dassie F, Francomano C, Marshall RP, Belal M, Skordilis K, Hayer M, Price AM, Cramb R, Edwards N, Steeds RP, Geberhiwot T
Source: Nephrol Dial Transplant 2018 Oct 10;
Publication date: 2018-10-10
Kidney Function Reserve Capacity in Early and Later Stage Autosomal Dominant Polycystic Kidney Disease.
Author(s): Messchendorp AL, van Londen M, Taylor JM, de Borst MH, Navis G, Casteleijn NF, Gaillard CAJM, Bakker SJL, Gansevoort RT
Source: Clin J Am Soc Nephrol 2018 Sep 25;
Publication date: 2018-09-25
Vascular Dysfunction, Oxidative Stress, and Inflammation in Autosomal Dominant Polycystic Kidney Disease.
Author(s): Nowak KL, Wang W, Farmer-Bailey H, Gitomer B, Malaczewski M, Klawitter J, Jovanovich A, Chonchol M
Source: Clin J Am Soc Nephrol 2018 Sep 18;
Publication date: 2018-09-18
Fundamental insights into autosomal dominant polycystic kidney disease from human-based cell models.
Author(s): Weydert C, Decuypere JP, De Smedt H, Janssens P, Vennekens R, Mekahli D
Source: Pediatr Nephrol 2018 Sep 13;
Publication date: 2018-09-13
A Practical Guide for Treatment of Rapidly Progressive ADPKD with Tolvaptan.
Author(s): Chebib FT, Perrone RD, Chapman AB, Dahl NK, Harris PC, Mrug M, Mustafa RA, Rastogi A, Watnick T, Yu ASL, Torres VE
Source: J Am Soc Nephrol 2018 Sep 18;
Publication date: 2018-09-18
Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study.
Author(s): Khan NE, Ling A, Raske ME, Harney LA, Carr AG, Field A, Harris AK, Williams GM, Dehner LP, Messinger YH, Hill DA, Schultz KAP, Stewart DR
Source: Pediatr Nephrol 2018 Sep 3;
Publication date: 2018-09-3
Evolving role of genetic testing for the clinical management of autosomal dominant polycystic kidney disease.
Author(s): Lanktree MB, Iliuta IA, Haghighi A, Song X, Pei Y
Source: Nephrol Dial Transplant 2018 Aug 27;
Publication date: 2018-08-27
HIF-1α promotes cyst progression in a mouse model of autosomal dominant polycystic kidney disease.
Author(s): Kraus A, Peters DJM, Klanke B, Weidemann A, Willam C, Schley G, Kunzelmann K, Eckardt KU, Buchholz B
Source: Kidney Int 2018 Aug 26;
Publication date: 2018-08-26
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
Author(s): van der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, Hwang DY, Schulz J, Braun DA, Schmidt JM, Schapiro D, Schneider R, Warejko JK, Daga A, Majmundar AJ, Tan W, Jobst-Schwan T, Hermle T, Widmeier E, Ashraf S, Amar A, Hoogstraaten CA, Hugo H, Kitzler TM, Kause F, Kolvenbach CM, Dai R, Spaneas L, Amann K, Stein DR, Baum MA, Somers MJG, Rodig NM, Ferguson MA, Traum AZ, Daouk GH, Bogdanović R, Stajić N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Al-Saffar M, Awad HS, Eid LA, Selvin A, Senguttuvan P, Sanna-Cherchi S, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Wilson MW, Mane SM, Lifton RP, Lee RS, Bauer SB, Lu W, Reutter HM, Tasic V, Shril S, Hildebrandt F
Source: J Am Soc Nephrol 2018 Aug 24;
Publication date: 2018-08-24
Metabolism and mitochondria in polycystic kidney disease research and therapy.
Author(s): Padovano V, Podrini C, Boletta A, Caplan MJ
Source: Nat Rev Nephrol 2018 Aug 17;
Publication date: 2018-08-17
Oxidative stress in autosomal dominant polycystic kidney disease: player and/or early predictor for disease progression?
Author(s): Andries A, Daenen K, Jouret F, Bammens B, Mekahli D, Van Schepdael A
Source: Pediatr Nephrol 2018 Aug 13;
Publication date: 2018-08-13
Long-Term Administration of Tolvaptan in Autosomal Dominant Polycystic Kidney Disease.
Author(s): Edwards ME, Chebib FT, Irazabal MV, Ofstie TG, Bungum LA, Metzger AJ, Senum SR, Hogan MC, El-Zoghby ZM, Kline TL, Harris PC, Czerwiec FS, Torres VE
Source: Clin J Am Soc Nephrol 2018 Jul 19;
Publication date: 2018-07-19
Recent Advances in the Management of Autosomal Dominant Polycystic Kidney Disease.
Author(s): Chebib FT, Torres VE
Source: Clin J Am Soc Nephrol 2018 Jul 26;
Publication date: 2018-07-26
Preimplantation Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease Applied in China.
Author(s): Zhou C, Mei C, Xue C
Source: Am J Kidney Dis 2018 Jul 11;
Publication date: 2018-07-11
Congenital Heart Defects and Ciliopathies Associated With Renal Phenotypes.
Author(s): Gabriel GC, Pazour GJ, Lo CW
Source: Front Pediatr 2018;6:175
Publication date: 2018
Gastrostomy Tube Insertion in Pediatric Patients With Autosomal Recessive Polycystic Kidney Disease (ARPKD): Current Practice.
Author(s): Burgmaier K, Brandt J, Shroff R, Witters P, Weber LT, Dötsch J, Schaefer F, Mekahli D, Liebau MC
Source: Front Pediatr 2018;6:164
Publication date: 2018
Early cardiovascular manifestations in children and adolescents with autosomal dominant polycystic kidney disease: a single center study.
Author(s): Karava V, Benzouid C, Hogan J, Dossier C, Denjean AP, Deschênes G
Source: Pediatr Nephrol 2018 May 17;
Publication date: 2018-05-17
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease.
Author(s): Burgmaier K, Kunzmann K, Ariceta G, Bergmann C, Buescher AK, Burgmaier M, Dursun I, Duzova A, Eid L, Erger F, Feldkoetter M, Galiano M, Geßner M, Goebel H, Gokce I, Haffner D, Hooman N, Hoppe B, Jankauskiene A, Klaus G, König J, Litwin M, Massella L, Mekahli D, Melek E, Mir S, Pape L, Prikhodina L, Ranchin B, Schild R, Seeman T, Sever L, Shroff R, Soliman NA, Stabouli S, Stanczyk M, Tabel Y, Taranta-Janusz K, Testa S, Thumfart J, Topaloglu R, Weber LT, Wicher D, Wühl E, Wygoda S, Yilmaz A, Zachwieja K, Zagozdzon I, Zerres K, Dötsch J, Schaefer F, Liebau MC
Source: J Pediatr 2018 May 9;
Publication date: 2018-05-9
Liver involvement in kidney disease and vice versa.
Author(s): Van Hoeve K, Mekahli D, Morava E, Levtchenko E, Witters P
Source: Pediatric nephrology (Berlin, Germany)
Publication date: 2018-06
Cystic Kidney Diseases From the Adult Nephrologist's Point of View.
Author(s): Müller RU, Benzing T
Source: Frontiers in pediatrics
Publication date: 2018
3DUS as an alternative to MRI for measuring renal volume in children with autosomal dominant polycystic kidney disease.
Author(s): Breysem L, De Rechter S, De Keyzer F, Smet MH, Bammens B, Van Dyck M, Hofmans M, Oyen R, Levtchenko E, Mekahli D
Source: Pediatric nephrology (Berlin, Germany)
Publication date: 2018-05
Prevalence of Hypertension in Children with Early-Stage ADPKD.
Author(s): Massella L, Mekahli D, Paripović D, Prikhodina L, Godefroid N, Niemirska A, Ağbaş A, Kalicka K, Jankauskiene A, Mizerska-Wasiak M, Afonso AC, Salomon R, Deschênes G, Ariceta G, Özçakar ZB, Teixeira A, Duzova A, Harambat J, Seeman T, Hrčková G, Lungu AC, Papizh S, Peco-Antic A, De Rechter S, Giordano U, Kirchner M, Lutz T, Schaefer F, Devuyst O, Wühl E, Emma F
Source: Clinical journal of the American Society of Nephrology : CJASN
Publication date: 2018-04-19
NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.
Author(s): Snoek R, van Setten J, Keating BJ, Israni AK, Jacobson PA, Oetting WS, Matas AJ, Mannon RB, Zhang Z, Zhang W, Hao K, Murphy B, Reindl-Schwaighofer R, Heinzl A, Oberbauer R, Viklicky O, Conlon PJ, Stapleton CP, Bakker SJL, Snieder H, Peters EDJ, van der Zwaag B, Knoers NVAM, de Borst MH, van Eerde AM
Source: Journal of the American Society of Nephrology : JASN
Publication date: 2018-04-13



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