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Case Report

696 Views

6 Pages

Congenital Glucose–Galactose Malabsorption Presenting as Hypertriglyceridemia and Medullary Nephrocalcinosis

Malika Goel,
Renu Suthar and
Lesa Dawman

Pediatr. Rep.2025, 17(5), 90;https://doi.org/10.3390/pediatric17050090

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5 September 2025

A 4-month-old male child was admitted with failure to thrive, persistent osmotic diarrhea, and presence of multiple metabolic abnormalities, which included hypertriglyceridemia, hypercholesterolemia, hypercalcemia, and medullary nephrocalcinosis. He...

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Article

20 Citations

4,701 Views

15 Pages

Proteomic Analysis of Urinary Extracellular Vesicles Reveals a Role for the Complement System in Medullary Sponge Kidney Disease

Maurizio Bruschi,
Simona Granata,
Giovanni Candiano,
Antonia Fabris,
Andrea Petretto,
Gian Marco Ghiggeri,
Giovanni Gambaro and
Gianluigi Zaza

Int. J. Mol. Sci.2019, 20(21), 5517;https://doi.org/10.3390/ijms20215517

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5 November 2019

Medullary sponge kidney (MSK) disease is a rare and neglected kidney condition often associated with nephrocalcinosis/nephrolithiasis and cystic anomalies in the precalyceal ducts. Little is known about the pathogenesis of this disease, so we address...

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