Proteinuria in childhood: A case report of Dent disease
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Keywords

case report
child
proteinuria
Dent disease

How to Cite

1.
Murillo L, Paz BE, Forero Delgadillo JM, Padilla Guzmán A, Ochoa Jiménez VA, Restrepo JM. Proteinuria in childhood: A case report of Dent disease. Rev. Colomb. Nefrol. [Internet]. 2023 Mar. 15 [cited 2023 Apr. 1];10(2). Available from: https://revistanefrologia.org/index.php/rcn/article/view/639

Abstract

Background: In pediatric patients, proteinuria is a relatively frequent entity that can be physiological or pathological. The second one, due to an alteration at the glomerular level with the loss of large proteins or at the tubular level, characterized mainly by the loss of low molecular weight proteins and changes in the excretion of ions. Among the hereditary diseases that present with tubular proteinuria, Dent disease is a disease linked to the X chromosome. Therefore, it manifests essentially in males, but women can be carriers and have minor clinical manifestations of the disease. Dent and Friedman made the first description of this disease in 1964. Recently, most of the cases have been reported in China and Germany.

Objective: To perform a revision of Dent disease, as well as the diagnostic approach of childhood proteinuria based in our case in order to suspect this disease. 

Case description: This is the case of a masculine patient, without relevant prenatal and personal antecedents, the son of a father with polycystic renal disease, who presents persistent proteinuria from the first months of life, and who, at seven years old, the presence of a variant in the CLCN5 gene -causing of type 1 Dent disease- was documented.

Discussion: The persistent pathological proteinuria in childhood must be studied due to its possible relation with pathologies that could affect renal function. Moreover, the differentiation among glomerular and tubular proteinuria can guide us to perform additional studies, including genetic tests to diagnose infrequent pathologies like Dent disease.

Conclusion: The diagnostic approach to rare causes of tubular proteinuria in childhood, such as Dent's disease, requires joint assessment between pediatric nephrology and clinical genetics.

https://doi.org/10.22265/acnef.10.2.639
PDF (Español (España))

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