<abstract xmlns="http://www.w3.org/1999/xhtml"><p>Distal renal tubular acidosis (dRTA) (MIM #267300, #602722 and #179800) is a rare inherited tubulopathy characterized by the inability of the distal tubule to acidify the urine with consecutive systemic acidosis. The clinical features include polyuria, polydipsia, poor appetite, failure to thrive, short stature and rickets. Prominent biochemical features are hypokalemia, hypercalciuria and hypocitraturia. There are reports on patients who presented with unusual biochemical features such as low molecular proteinuria, hypophosphatemia, hypouricemia, generalized hyperaminioaciduria, hyperoxaluria and other making diagnostic confusion to the clinicians. In this work, we report on a series of 8 children with clinically, biochemically and genetically proven dRTA who present with low molecular proteinuria at the disease onset. With metabolic compensation of the disease, there was complete resolution of the low molecular weight protenuria and other proximal tubular abnormalities in all children. Late recognition of the disease with long standing hypokalemia and acidosis may result in abnormal expression and function of the transporters in the proximal tubules. Sodium dodecyl sulphate polyacrylamide gel electrophoeresis is an accurate method for detection and follow up of patients with low molecular weight proteinuria.</p></abstract>

Distal renal tubular acidosis (dRTA) (MIM #267300, #602722 and #179800) is a rare inherited tubulopathy characterized by the inability of the distal tubule to acidify the urine with consecutive systemic acidosis. The clinical features include polyuria, polydipsia, poor appetite, failure to thrive, short stature and rickets. Prominent biochemical features are hypokalemia, hypercalciuria and hypocitraturia. There are reports on patients who presented with unusual biochemical features such as low molecular proteinuria, hypophosphatemia, hypouricemia, generalized hyperaminioaciduria, hyperoxaluria and other making diagnostic confusion to the clinicians. In this work, we report on a series of 8 children with clinically, biochemically and genetically proven dRTA who present with low molecular proteinuria at the disease onset. With metabolic compensation of the disease, there was complete resolution of the low molecular weight protenuria and other proximal tubular abnormalities in all children. Late recognition of the disease with long standing hypokalemia and acidosis may result in abnormal expression and function of the transporters in the proximal tubules. Sodium dodecyl sulphate polyacrylamide gel electrophoeresis is an accurate method for detection and follow up of patients with low molecular weight proteinuria.

Low Molecular Weight Proteinuria in Children with Distal Renal Tubular Acidosis

Department of Neonatology, University Clinical Center

Institute of Medical and Experimental Biochemistry, Medical School

University Children’s Hospital, Medical School

PRILOZI

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

{"article-title":"Low Molecular Weight Proteinuria in Children with Distal Renal Tubular Acidosis"}

Distal renal tubular acidosis (dRTA) (MIM #267300, #602722 and #179800) is a rare inherited tubulopathy characterized by the inability of the distal tubule to...

Low Molecular Weight Proteinuria in Children with Distal Renal Tubular Acidosis

Pubblicato online: 13 ago 2018

Pagine: 91 - 95

DOI: https://doi.org/10.2478/prilozi-2018-0028

Parole chiave
distal renal tubular acidosis, low molecular weight proteinuria, SDS-PAGE

© 2018 Shpetim Salihu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Low Molecular Weight Proteinuria in Children with Distal Renal Tubular Acidosis

Pubblicato online: 13 ago 2018

Pagine: 91 - 95

DOI: https://doi.org/10.2478/prilozi-2018-0028

Parole chiavedistal renal tubular acidosis, low molecular weight proteinuria, SDS-PAGE

© 2018 Shpetim Salihu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Parole chiave
distal renal tubular acidosis, low molecular weight proteinuria, SDS-PAGE