Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)

被引：54

作者：

Burgmaier, Kathrin ^{[1
]}

Kilian, Samuel ^{[2
]}

Bammens, Bert ^{[3
,4
]}

Benzing, Thomas ^{[5
,6
,7
]}

Billing, Heiko ^{[8
]}

Buescher, Anja ^{[9
]}

Galiano, Matthias ^{[10
]}

Grundmann, Franziska ^{[5
,6
]}

Klaus, Guenter ^{[11
]}

Mekahli, Djalila ^{[12
,13
]}

Michel-Calemard, Laurence ^{[14
]}

Milosevski-Lomic, Gordana ^{[15
]}

Ranchin, Bruno ^{[16
]}

Sauerstein, Katja ^{[10
]}

Schaefer, Susanne ^{[17
]}

Shroff, Rukshana ^{[18
]}

Sterenborg, Rosalie ^{[18
]}

Verbeeck, Sarah ^{[13
]}

Weber, Lutz T. ^{[1
]}

Wicher, Dorota ^{[19
]}

Wuehl, Elke ^{[17
]}

Doetsch, Joerg ^{[1
]}

Schaefer, Franz ^{[17
]}

Liebau, Max C. ^{[1
,6
]}

机构：

[1] Univ Hosp Cologne, Dept Pediat, Cologne, Germany

[2] Heidelberg Univ, Inst Med Biometry & Informat, Heidelberg, Germany

[3] Katholieke Univ Leuven, Dept Microbiol & Immunol, Lab Nephrol, Leuven, Belgium

[4] Univ Hosp Leuven, Dept Nephrol, Dialysis & Renal Transplantat, Leuven, Belgium

[5] Univ Cologne, Dept Internal Med 2, Cologne, Germany

[6] Univ Cologne, Ctr Mol Med Cologne, Cologne, Germany

[7] Univ Cologne, Cologne Excellence Cluster Cellular Stress Respon, Cologne, Germany

[8] Childrens Univ Hosp Tuebingen, Dept Gen Pediat & Hematol Oncol, Tubingen, Germany

[9] Univ Hosp Essen, Dept Pediat 2, Essen, Germany

[10] Hosp Friedrich Alexander Univ Erlangen Nurnberg F, Dept Pediat & Adolescent Med, Erlangen, Germany

[11] Univ Hosp Marburg, KfH Ctr Paediat Nephrol, Marburg, Germany

[12] Katholieke Univ Leuven, PKD Res Grp, Dept Dev & Regenerat, Leuven, Belgium

[13] Univ Hosp Leuven, Dept Pediat Nephrol, Leuven, Belgium

[14] Hospices Civils Lyon, Serv Biochim Biol Mol Grand Est, Bron, France

[15] Univ Childrens Hosp, Dept Nephrol, Belgrade, Serbia

[16] Hospices Civils Lyon, Pediat Nephrol Unit, Hop Femme Mere Enfant, Lyon, France

[17] Heidelberg Univ, Ctr Pediat & Adolescent Med, Div Pediat Nephrol, Heidelberg, Germany

[18] Great Ormond St Hosp Children NHS Fdn Trust, London, England

[19] Childrens Mem Hlth Inst, Dept Med Genet, Warsaw, Poland

来源：

SCIENTIFIC REPORTS | 2019年 / 9卷 / 1期

关键词：

PKHD1; MUTATIONS; PATIENT; LIVER; ENCODES; ASSOCIATION; PROTEIN; GENE; SIZE;

D O I：

10.1038/s41598-019-43488-w

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Autosomal recessive polycystic kidney disease (ARPKD) is a severe pediatric hepatorenal disorder with pronounced phenotypic variability. A substantial number of patients with early diagnosis reaches adulthood and some patients are not diagnosed until adulthood. Yet, clinical knowledge about adult ARPKD patients is scarce. Here, we describe forty-nine patients with longitudinal follow-up into young adulthood that were identified in the international ARPKD cohort study ARegPKD. Forty-five patients were evaluated in a cross-sectional analysis at a mean age of 21.4 (+/- 3.3) years describing hepatorenal findings. Renal function of native kidneys was within CKD stages 1 to 3 in more than 50% of the patients. Symptoms of hepatic involvement were frequently detected. Fourteen (31%) patients had undergone kidney transplantation and six patients (13%) had undergone liver transplantation or combined liver and kidney transplantation prior to the visit revealing a wide variability of clinical courses. Hepatorenal involvement and preceding complications in other organs were also evaluated in a time-to-event analysis. In summary, we characterize the broad clinical spectrum of young adult ARPKD patients. Importantly, many patients have a stable renal and hepatic situation in young adulthood. ARPKD should also be considered as a differential diagnosis in young adults with fibrocystic hepatorenal disease.

引用

页数：11

共 31 条

[1] Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD) [J].