1. Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.
- Author
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Estève E, Krug P, Hummel A, Arnoux JB, Boyer O, Brassier A, de Lonlay P, Vuiblet V, Gobin S, Salomon R, Piètrement C, Bonnefont JP, Servais A, and Galmiche L
- Subjects
- Adolescent, Adult, Amino Acid Metabolism, Inborn Errors complications, Amino Acid Metabolism, Inborn Errors genetics, Amino Acid Metabolism, Inborn Errors therapy, Amino Acid Transport System y+L, Amyloidosis etiology, Amyloidosis pathology, Biopsy, Child, Disease Progression, Female, Fluorescent Antibody Technique, Fusion Regulatory Protein 1, Light Chains genetics, Genetic Predisposition to Disease, Glomerulonephritis, Membranoproliferative etiology, Glomerulonephritis, Membranoproliferative pathology, Humans, Infant, Male, Mutation, Nephrocalcinosis etiology, Nephrocalcinosis pathology, Nephrotic Syndrome etiology, Nephrotic Syndrome pathology, Paris, Phenotype, Proteinuria etiology, Proteinuria pathology, Renal Insufficiency, Chronic etiology, Renal Insufficiency, Chronic pathology, Time Factors, Amino Acid Metabolism, Inborn Errors pathology, Kidney pathology
- Abstract
Lysinuric protein intolerance (LPI) is a rare autosomal recessive disease caused by mutations in the SLC7A7 gene encoding the light subunit of a cationic amino acid transporter. Symptoms mimic primary urea cycle defects but dysimmune symptoms are also described. Renal involvement in LPI was first described in the 1980s. In 2007, it appeared that it could concern as much as 75% of LPI patients and could lead to end-stage renal disease. The most common feature is proximal tubular dysfunction and nephrocalcinosis but glomerular lesions are also reported. However, very little is known regarding histological lesions associated with LPI. We gathered every kidney biopsy of LPI-proven patients in our highly specialized pediatric and adult institution. Clinical, biological, and histological information was analyzed. Five LPI patients underwent kidney biopsy in our institution between 1986 and 2015. Clinically, 4/5 presented with proximal tubular dysfunction and 3/5 with nephrotic range proteinuria. Histology showed unspecific tubulointerstitial lesions and nephrocalcinosis in 3/5 biopsies and marked peritubular capillaritis in one child. Glomerular lesions were heterogeneous: lupus-like-full house membranoproliferative glomerulonephritis (MPGN) in one child evolved towards monotypic IgG1κ MPGN sensitive to immunomodulators. One patient presented with glomerular non-AA non-AL amyloidosis. Renal biopsy is particularly relevant in LPI presenting with glomerular symptoms for which variable histological lesions can be responsible, implying specific treatment and follow-up., (Copyright © 2017 Elsevier Inc. All rights reserved.)
- Published
- 2017
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