The Kidney Involvement In Inborn Errors Of Metabolism

Athanasios Evangeliou, Maria Gogou, Despoina Tramma

Inborn errors of metabolism are characterized by a significant heterogeneity in pathophysiological mechanisms and clinical manifestations. A variety of kidney disorders, inherited or acquired, can consist clinical signs of metabolic disorders. The most frequent of them include Fanconi syndrome, renal tubular acidosis, nephrolithiasis, renal cysts and acute kidney injury. On the other hand, many types of inborn errors of metabolism (carbohydrate disorders, lysosomal disorders, organic acidemias, mitochondrial disorders, purine and pyrimidine disorders) can be associated with specific renal disorders. Investigation for renal manifestations should be a necessary part of the routine follow-up of these children, while the recognition of specific patterns of renal involvement must raise suspicion for an underlying inborn error of metabolism.