ArticlePediatric nephrology (Berlin, Germany)2015
In-depth phenotyping of a Donnai-Barrow patient helps clarify proximal tubule dysfunction.
Article in Pediatric nephrology (Berlin, Germany), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 31 citations in OpenAlex.
- Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.The Journal of clinical investigation · 2020Trial
- Megalin: from structure to function.Nature reviews. Nephrology · 2026Review
- Repeated aminoglycoside exposure activates interferon-stimulated genes in human renal proximal tubular models.Archives of toxicology · 2026Article
- Renal Functional Reserve-Informed Personalized Renoprotection in Chronic Kidney Disease: A Proposed Extension of the KDIGO CGA Framework.Biomedicines · 2026Review
- Article
- The Apical Endocytic-Lysosomal Apparatus in CLCN5 Mutations with Phenotypic-Genotypic Correlations in Three Cases.International journal of molecular sciences · 2024Article
- Receptor-associated protein impairs ligand binding to megalin and megalin-dependent endocytic flux in proximal tubule cells.American journal of physiology. Renal physiology · 2023Article
- Low molecular weight proteinuria, congenital myopia and hearing loss in a 10-year-old boy: Answers.Pediatric nephrology (Berlin, Germany) · 2023Article
- Megalin, cubilin, and Dab2 drive endocytic flux in kidney proximal tubule cells.Molecular biology of the cell · 2023Article
- LRP2 contributes to planar cell polarity-dependent coordination of motile cilia function.Cell and tissue research · 2023Article
- Two novel variations inFrontiers in genetics · 2023Article
- Modelling normal and nephrotic axial uptake of albumin and other filtered proteins along the proximal tubule.The Journal of physiology · 2022Article
- Cubilin-, megalin-, and Dab2-dependent transcription revealed by CRISPR/Cas9 knockout in kidney proximal tubule cells.American journal of physiology. Renal physiology · 2022Article
- Spectrum of tubular dysfunction in Donnai-Barrow syndrome. Lessons for the clinical nephrologist.Journal of nephrology · 2021Article
- Renal Handling of Albumin-From Early Findings to Current Concepts.International journal of molecular sciences · 2021Review
- Beyond the tubule: pathological variants ofAmerican journal of physiology. Renal physiology · 2020Article
- Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome.Kidney international · 2020Article
- Making a Dent in Dent Disease.Function (Oxford, England) · 2020Review
- Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression.Journal of the American Society of Nephrology : JASN · 2019Article
- Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome.Clinical genetics · 2018Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe megalin/cubilin/amnionless complex is essential for albumin and low molecular weight (LMW) protein reabsorption by renal proximal tubules (PT). Mutations of the LRP2 gene encoding megalin cause autosomal recessive Donnai-Barrow/facio-oculo-acoustico-renal syndrome (DB/FOAR), which is characterized by LMW proteinuria. The pathophysiology of DB/FOAR-associated PT dysfunction remains unclear. CLINICAL CASE: A 3-year-old girl presented with growth retardation and proteinuria. Clinical examination was unremarkable, except for a still-opened anterior fontanel and myopia. Psychomotor development was delayed. At 6, she developed sensorineural hearing loss. Hypertelorism was noted when she turned 12. Blood analyses, including renal function parameters, were normal. Urine sediment was bland. Proteinuria was significant and included albumin and LMW proteins. Immunoblotting analyses detected cubilin and type 3 carbonic anhydrase (CA3) in the urine. Renal ultrasound was unremarkable. Optical examination of a renal biopsy did not disclose any tubular or glomerular abnormality. Electron microscopy revealed that PT apical endocytic apparatus was significantly less developed. Immunostaining for megalin showed a faint signal in PT cytosol contrasting with the distribution of cubilin at the apical membrane. The diagnostic procedure led to identifying two mutations of the LRP2 gene.
conclusionsThe functional loss of megalin in DB/FOAR causes PT dysfunction characterized by increased urinary shedding of CA3 and cubilin.
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