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

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