Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases

被引：3

作者：

Schumann, Anke ^{[1
,7
]}

Schultheiss, Ulla T. ^{[2
,3
]}

Ferreira, Carlos R. ^{[4
]}

Blau, Nenad ^{[5
,6
]}

机构：

[1] Univ Freiburg, Fac Med, Med Ctr, Dept Gen Paediat Adolescent Med & Neonatol, Freiburg, Germany

[2] Univ Freiburg, Inst Genet Epidemiol, Fac Med, Dept Med Nephrol & Primary Care 4, Freiburg, Germany

[3] Univ Freiburg, Inst Genet Epidemiol, Med Ctr, Freiburg, Germany

[4] NHGRI, NIH, Bethesda, MD USA

[5] Univ Childrens Hosp, Div Metab, Zurich, Switzerland

[6] Univ Childrens Hosp Zurich, Div Metab, Steinwiesstr 75, CH-8032 Zurich, Switzerland

[7] Univ Freiburg, Fac Med, Med Ctr, Dept Gen Paediat Adolescent Med & Neonatol, Mathildenstr 1, D-79106 Freiburg, Germany

来源：

MOLECULAR GENETICS AND METABOLISM | 2023年 / 140卷 / 03期

关键词：

Inborn errors of metabolism; Inherited metabolic diseases; Tubulointerstitial nephritis; Kidney cysts; Chronic kidney disease; IEMbase; PYRUVATE-CARBOXYLASE DEFICIENCY; RENAL TUBULAR-ACIDOSIS; DISORDERS; SPECTRUM; MUTATIONS; PHENOTYPE; DIAGNOSIS; TYPE-1; ABNORMALITIES; TYROSINEMIA;

D O I：

10.1016/j.ymgme.2023.107683

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Kidney disease is a global health burden with high morbidity and mortality. Causes of kidney disease are numerous, extending from common disease groups like diabetes and arterial hypertension to rare conditions including inherited metabolic diseases (IMDs). Given its unique anatomy and function, the kidney is a target organ in about 10% of known IMDs, emphasizing the relevant contribution of IMDs to kidney disease. The pattern of injury affects all segments of the nephron including glomerular disease, proximal and distal tubular damage, kidney cyst formation, built-up of nephrocalcinosis and stones as well as severe malformations. We revised and updated the list of known metabolic etiologies associated with kidney involvement and found 190 relevant IMDs. This represents the 14th of a series of educational articles providing a comprehensive and revised list of metabolic differential diagnoses according to system involvement.

引用

页数：9

共 113 条

[11] Clinical and biochemical footprints of inherited metabolic diseases. IX. Metabolic ear disease [J].

Bakhos, David ;

Blasco, Helene ;

Galvin III, John J. ;

Ferreira, Carlos R. ;

Blau, Nenad .

MOLECULAR GENETICS AND METABOLISM, 2022, 137 (03) :223-229

[12] Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease [J].

Baumner, Soren ;

Weber, Lutz T. .

FRONTIERS IN PEDIATRICS, 2018, 6

[13] Global, regional, and national burden of chronic kidney disease, 1990-2017: a systematic analysis for the Global Burden of Disease Study 2017 [J].

Bikbov, Boris ;

Purcell, Carrie ;

Levey, Andrew S. ;

Smith, Mari ;

Abdoli, Amir ;

Abebe, Molla ;

Adebayo, Oladimeji M. ;

Afarideh, Mohsen ;

Agarwal, Sanjay Kumar ;

Agudelo-Botero, Marcela ;

Ahmadian, Elham ;

Al-Aly, Ziyad ;

Alipour, Vahid ;

Almasi-Hashiani, Amir ;

Al-Raddadi, Rajaa M. ;

Alvis-Guzman, Nelson ;

Amini, Saeed ;

Andrei, Tudorel ;

Andrei, Catalina Liliana ;

Andualem, Zewudu ;

Anjomshoa, Mina ;

Arabloo, Jalal ;

Ashagre, Alebachew Fasil ;

Asmelash, Daniel ;

Ataro, Zerihun ;

Atout, Maha Moh'd Wahbi ;

Ayanore, Martin Amogre ;

Badawi, Alaa ;

Bakhtiari, Ahad ;

Ballew, Shoshana H. ;

Balouchi, Abbas ;

Banach, Maciej ;

Barquera, Simon ;

Basu, Sanjay ;

Bayih, Mulat Tirfie ;

Bedi, Neeraj ;

Bello, Aminu K. ;

Bensenor, Isabela M. ;

Bijani, Ali ;

Boloor, Archith ;

Borzi, Antonio M. ;

Camera, Luis Alberto ;

Carrero, Juan J. ;

Carvalho, Felix ;

Castro, Franz ;

Catala-Lopez, Ferran ;

Chang, Alex R. ;

Chin, Ken Lee ;

Chung, Sheng-Chia ;

Cirillo, Massimo .

LANCET, 2020, 395 (10225) :709-733

[14] Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines [J].

Braverman, Nancy E. ;

Raymond, Gerald V. ;

Rizzo, William B. ;

Moser, Ann B. ;

Wilkinson, Mark E. ;

Stone, Edwin M. ;

Steinberg, Steven J. ;

Wangler, Michael F. ;

Rush, Eric T. ;

Hacia, Joseph G. ;

Bose, Mousumi .

MOLECULAR GENETICS AND METABOLISM, 2016, 117 (03) :313-321

[15] Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease [J].

Broomfield, Alexander ;

Sweeney, Mary G. ;

Woodward, Cathy E. ;

Fratter, Carl ;

Morris, Andrew M. ;

Leonard, James V. ;

Abulhoul, Lara ;

Grunewald, Stephanie ;

Clayton, Peter T. ;

Hanna, Michael G. ;

Poulton, Joanna ;

Rahman, Shamima .

JOURNAL OF INHERITED METABOLIC DISEASE, 2015, 38 (03) :445-457

[16] Vici syndrome: a review [J].

Byrne, Susan ;

Dionisi-Vici, Carlo ;

Smith, Luke ;

Gautel, Mathias ;

Jungbluth, Heinz .

ORPHANET JOURNAL OF RARE DISEASES, 2016, 11

[17] Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hunermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature [J].

Canueto, J. ;

Giros, M. ;

Ciria, S. ;

Pi-Castan, G. ;

Artigas, M. ;

Garcia-Dorado, J. ;

Garcia-Patos, V. ;

Viros, A. ;

Vendrell, T. ;

Torrelo, A. ;

Hernandez-Martin, A. ;

Martin-Hernandez, E. ;

Garcia-Silva, M. T. ;

Fernandez-Burriel, M. ;

Rosell, J. ;

Tejedor, M. ;

Martinez, F. ;

Valero, J. ;

Garcia, J. L. ;

Sanchez-Tapia, E. M. ;

Unamuno, P. ;

Gonzalez-Sarmiento, R. .

BRITISH JOURNAL OF DERMATOLOGY, 2012, 166 (04) :830-838

[18] Rrm2b deletion causes mitochondrial metabolic defects in renal tubules [J].

Chen, Yi-Fan ;

Lin, I-Hsuan ;

Guo, Yu-Ru ;

Chiu, Wei-Jun ;

Wu, Mai-Szu ;

Jia, Wei ;

Yen, Yun .

SCIENTIFIC REPORTS, 2019, 9 (1)

[19]

Christodoulou J., 1993, GeneReviews((R))

[20]

Chung Sungjin, 2021, Electrolyte Blood Press, V19, P1, DOI 10.5049/EBP.2021.19.1.1

← 1 2 3 4 5 6 7 8 9 10 →