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Chapter 6 - Inherited Metabolic Diseases Affecting the Kidney

from Section 2 - Glomerular Diseases

Published online by Cambridge University Press:  10 August 2023

By
Sabine Leh  and
Surya V. Seshan
Edited by
Helen Liapis
Helen Liapis
Affiliation:
Ludwig Maximilian University, Nephrology Center, Munich, Adjunct Professor and Washington University St Louis, Department of Pathology and Immunology, Retired Professor
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Summary

This chapter addresses the clinicopathologic features of kidney diseases in various categories of inherited metabolic diseases or inborn errors of metabolism, most often secondary to a systemic disease in the pediatric population. Considering the rarity of these diseases, renal involvement may be silent, purely functional and/or manifest parenchymal alterations with organ dysfunction. They may affect the glomerular, tubulo-interstitial or rarely vascular compartments, although they are not mutually exclusive in a given disease. The major groups of diseases include various forms of lipid, protein/lipoprotein, glycogen disorders and other organic substances, as a result of specific cellular organelle dysfunction or an inherited enzyme deficiency, allowing for accumulation of abnormal metabolites or substrates that cells are unable to eliminate effectively. The clinical manifestations may appear during the neonatal period or develop later during childhood with progressive organ dysfunction with a wide spectrum of signs and symptoms, having an acute, subacute or chronic presentation. The age of onset and disease severity may depend on the inheritance patterns and the type of gene mutations, as well as environmental influences. A detailed family history and genetic studies are often useful, along with clinical and laboratory findings at the time of presentation, to make a definitive diagnosis. Although the kidney is rarely a target organ, when affected, a renal biopsy is valuable in establishing a diagnosis and also in further delineating specific entities, based on their unique clinical, pathological, histochemical, ultrastructural and molecular/genetic characteristics.

Keywords

Metabolic renal diseaserenal lipidosesFabry diseasemucopolysaccharidosesLCAT deficiency diseaseNiemann–Pick diseaseglycogen storage diseaseslipoprotein glomerulopathydiabetesobesitymethylmalonic acidemiasickle cell diseaseelectron microscopy
Type
Chapter
Information
Pediatric Nephropathology & Childhood Kidney Tumors , pp. 121 - 158
Publisher: Cambridge University Press
Print publication year: 2023

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