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

Anke Schumann; Ulla T Schultheiss; Carlos R Ferreira; Nenad Blau

doi:10.1016/j.ymgme.2023.107683

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

Mol Genet Metab. 2023 Nov;140(3):107683. doi: 10.1016/j.ymgme.2023.107683. Epub 2023 Aug 12.

Authors

Anke Schumann¹, Ulla T Schultheiss², Carlos R Ferreira³, Nenad Blau⁴

Affiliations

¹ Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany. Electronic address: anke.schumann@uniklinik-freiburg.de.
² Department of Medicine IV, Nephrology and Primary Care, Faculty of Medicine, and Medical Center, University of Freiburg, Institute of Genetic Epidemiology, Freiburg, Germany. Electronic address: ulla.schultheiss@uniklinik-freiburg.de.
³ National Human Genome Research Institute, National Institutes of Health, Bethesda, USA. Electronic address: carlos.ferreira@nih.gov.
⁴ Division of Metabolism, University Children's Hospital, Zürich, Switzerland. Electronic address: nenad.blau@kispi.uzh.ch.

PMID: 37597335
DOI: 10.1016/j.ymgme.2023.107683

Abstract

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.

Keywords: Chronic kidney disease; IEMbase; Inborn errors of metabolism; Inherited metabolic diseases; Kidney cysts; Tubulointerstitial nephritis.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Humans
Hypertension*
Kidney
Kidney Diseases*
Metabolic Diseases* / diagnosis
Metabolic Diseases* / genetics
Metabolism, Inborn Errors* / diagnosis
Metabolism, Inborn Errors* / genetics