Treatment and long-term outcome in primary nephrogenic diabetes insipidus

被引：14

作者：

Lopez-Garcia, Sergio C. ^{[1
,2
]}

Downie, Mallory L. ^{[1
,2
]}

Kim, Ji Soo ^{[2
]}

Boyer, Olivia ^{[3
]}

Walsh, Stephen B. ^{[1
]}

Nijenhuis, Tom ^{[4
]}

Papizh, Svetlana ^{[5
]}

Yadav, Pallavi ^{[5
]}

Reynolds, Ben C. ^{[5
]}

Decramer, Stephane ^{[6
]}

Besouw, Martine ^{[7
]}

Carrascosa, Manel Perello ^{[8
]}

La Scola, Claudio ^{[9
]}

Trepiccione, Francesco ^{[10
]}

Ariceta, Gema ^{[11
]}

Hummel, Aurelie ^{[12
]}

Dossier, Claire ^{[13
]}

Sayer, John A. ^{[14
,15
,16
]}

Konrad, Martin ^{[17
]}

Keijzer-Veen, Mandy G. ^{[18
]}

Awan, Atif ^{[19
]}

Basu, Biswanath ^{[20
]}

Chauveau, Dominique ^{[21
]}

Madariaga, Leire ^{[22
]}

Koster-Kamphuis, Linda ^{[23
]}

Furlano, Monica ^{[24
]}

Zacchia, Miriam ^{[10
]}

Marzuillo, Pierluigi ^{[25
]}

Tse, Yincent ^{[26
]}

Dursun, Ismail ^{[27
]}

Pinarbasi, Ayse Seda ^{[27
]}

Tramma, Despoina ^{[28
]}

Hoorn, Ewout J. ^{[29
]}

Gokce, Ibrahim ^{[30
]}

Nicholls, Kathleen ^{[31
,32
]}

Eid, Loai A. ^{[33
]}

Sartz, Lisa ^{[34
]}

Riordan, Michael ^{[19
]}

Hooman, Nakysa ^{[35
]}

Printza, Nikoleta ^{[36
]}

Bonny, Olivier ^{[37
]}

Sancho, Pedro Arango ^{[38
]}

Schild, Raphael ^{[39
]}

Sinha, Rajiv ^{[40
]}

Guarino, Stefano ^{[25
]}

Jimenez, Victo Martinez ^{[41
]}

Pena, Lidia Rodriguez ^{[42
]}

Belge, Hendrica ^{[43
]}

Devuyst, Olivier ^{[44
]}

Wlodkowski, Tanja ^{[45
]}

机构：

[1] UCL, Dept Renal Med, London, England

[2] Great Ormond St Hosp Sick Children, Paediat Nephrol Unit, London, England

[3] Paris Descartes Univ, Necker Hosp, Assistance Publ Hop Paris, Imagine Inst,INSERM U1163,Dept Pediat Nephrol,Refe, Paris, France

[4] Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Dept Nephrol, Med Ctr,Radboudumc Expertise Ctr Zeldzame Nierziek, Nijmegen, Netherlands

[5] Pirogov Russian Natl Res Med Univ, Res & Clin Inst Pediat, Dept Hereditary & Acquired Kidney Dis, Moscow, Russia

[6] Leeds Teaching Hosp NHS Trust, Dept Paediat Nephrol, Leeds, England

[7] Royal Hosp Children, Dept Paediat Nephrol, Glasgow, Scotland

[8] Vall dHebron Univ Hosp, Dept Nephrol, Barcelona, Spain

[9] Azienda Osped Univ St Orsola Malpighi, Dept Woman Child & Urol Dis, Nephrol & Dialysis Unit, Bologna, Italy

[10] Univ Campania L Vanvitelli, Dept Translat Med Sci, Naples, Italy

[11] Hosp Univ Vall dHebron, Dept Paediat Nephrol, Barcelona, Spain

[12] Hop Necker Enfants Malad, Assistance Publ Hop Paris, Ctr Reference Malad Renales Hereditaires Enfant &, Dept Nephrol & Transplantat, Paris, France

[13] Hop Robert Debre, Dept Paediat Nephrol, F-75019 Paris, France

[14] Newcastle Univ, Translat & Clin Med Inst, Fac Med Sci, Cent Pkwy, Newcastle Upon Tyne, England

[15] Newcastle Upon Tyne Hosp NHS Fdn Trust, Renal Serv, Newcastle Upon Tyne, England

[16] Newcastle Univ, NIHR Newcastle Biomed Res Ctr, Newcastle Upon Tyne, England

[17] Univ Childrens Hosp, Dept Paediat Nephrol, Heidelberg, Germany

[18] Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Nephrol, Utrecht, Netherlands

[19] Temple St Childrens Univ Hosp, Dept Paediat Nephrol, Dublin, Ireland

[20] NRS Med Coll & Hosp, Dept Pediat, Div Pediat Nephrol, Kolkata, India

[21] Univ Toulouse III, Ctr Hosp Univ Toulouse, Dept Nephrol & Transplantat Organes, Ctr Reference Malad Renales Rares, Toulouse, France

[22] Univ Basque Country, Cruces Univ Hosp, Dept Paediat Nephrol, IIS Biocruces Bizkaia, Bizkaia, Spain

[23] Radboud Univ Nijmegen, Med Ctr, Amalia Childrens Hosp, Dept Paediat Nephrol, Nijmegen, Netherlands

[24] Univ Autonoma Barcelona, Inst Invest Biomed St Pau IIB St Pau, Nephrol Dept, Inst Invest Carlos 3,Dept Med,Inherited Kidney Dis, Madrid, Spain

[25] Univ Campania Luigi Vanvitelli, Dept Women Child & Gen & Specialized Surg, Naples, Italy

[26] Great North Childrens Hosp, Dept Paediat Nephrol, Newcastle Upon Tyne, England

[27] Erciyes Univ, Dept Paediat, Div Nephrol, Fac Med, Kayseri, Turkiye

[28] Aristotle Univ Thessaloniki, Papageorgiou Gen Hosp, Fac Hlth Sci, Sch Med,Dept Pediat 4, Saloniki, Greece

[29] Univ Med Ctr Rotterdam, Erasmus Med Ctr, Dept Internal Med, Div Nephrol & Transplantat, Rotterdam, Netherlands

[30] Marmara Univ, Fac Med, Dept Paediat Nephrol, Istanbul, Turkiye

[31] Royal Melbourne Hosp, Dept Nephrol, Parkville, Australia

[32] Univ Melbourne, Dept Nephrol, Parkville, Australia

[33] Dubai Hlth Author, Dept Paediat Nephrol, Dubai Hosp, Dubai, U Arab Emirates

[34] Lund Univ, Skane Univ Hosp, Dept Clin Sci, Paediat Nephrol, Lund, Sweden

[35] Iran Univ Med Sci, Aliasghar Children Hosp, Aliasghar Clin Res Dev Ctr ACRDC, Tehran, Iran

[36] Aristotle Univ Thessaloniki, Paediat Dept 1, Thessaloniki 54642, Greece

[37] Lausanne Univ Hosp, Serv Nephrol, Rue Bugnon 17, Lausanne, Switzerland

[38] Hosp St Joan de Deu, Dept Paediat Nephrol & Transplantat, Esplugas de Llobregat, Spain

[39] Univ Med Ctr Hamburg Eppendorf, Dept Paediat, Hamburg, Germany

[40] Inst Child Hlth, Div Paediat Nephrol, Kolkata, India

[41] Hosp Clin Univ Virgen de la Arrixaca, Dept Nephrol, Murcia, Spain

[42] Hosp Clin Univ Virgen de la Arrixaca, Dept Pediat, Sect Med Genet, Murcia, Spain

[43] Inst Pathol & Genet, Ctr Human Genet, Loverval, Belgium

[44] Univ Zurich, Inst Physiol, Zurich Ctr Integrat Human Physiol ZHIP, Mech Inherited Kidney Disorders Grp, Zurich, Switzerland

[45] Univ Childrens Hosp, Dept Paediat Nephrol, Heidelberg, Germany

[46] Bambino Gesu Pediat Hosp, Dept Pediat Subspecialties, Div Nephrol, IRCCS, Rome, Italy

[47] Univ Hosp, Dept Dev & regenerat, Lab Paediat Nephrol, Leuven, Belgium

[48] Univ Utrecht, Univ Med Ctr Utrecht, Ctr Mol Med, Dept Genet, Utrecht, Netherlands

[49] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands

[50] Univ Montreal, Dept Med, Nephrol Serv, Pharmacol & Physiol, Montreal, PQ, Canada

来源：

NEPHROLOGY DIALYSIS TRANSPLANTATION | 2023年 / 38卷 / 10期

关键词：

AQP2; AVPR2; chronic kidney disease; flow uropathy; nephrogenic diabetes insipidus; CHRONIC KIDNEY-DISEASE; PREVALENCE; CHILDREN; AVPR2; EPIDEMIOLOGY; ADOLESCENTS; MUTATIONS; FAMILIES; HEALTH;

D O I：

10.1093/ndt/gfaa243

中图分类号：

R3 [基础医学]; R4 [临床医学];

学科分类号：

1001 ; 1002 ; 100602 ;

摘要：

Background . Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome.Methods. Paediatric and adult nephrologists contacted through European professional organizations entered data in an online form.Results. Data were collected on 315 patients (22 countries, male 84%, adults 35%). Mutation testing had been performed in 270 (86%); pathogenic variants were identified in 258 (96%). The median (range) age at diagnosis was 0.6 (0.0-60) years and at last follow-up 14.0 (0.1-70) years. In adults, height was normal with a mean (standard deviation) score of -0.39 (+/- 1.0), yet there was increased prevalence of obesity (body mass index >30 kg/m(2); 41% versus 16% European average; P < 0.001). There was also increased prevalence of chronic kidney disease (CKD) Stage >= 2 in children (32%) and adults (48%). Evidence of flow uropathy was present in 38%. A higher proportion of children than adults (85% versus 54%; P < 0.001) received medications to reduce urine output. Patients >= 25 years were less likely to have a university degree than the European average (21% versus 35%; P = 0.003) but full-time employment was similar. Mental health problems, predominantly attention-deficit hyperactivity disorder (16%), were reported in 36% of patients.Conclusion. This large NDI cohort shows an overall favourable outcome with normal adult height and only mild to moderate CKD in most. Yet, while full-time employment was similar to the European average, educational achievement was lower, and more than half had urological and/or mental health problems.

引用

页码：2120 / 2130

页数：11

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