Nephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations

Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
Peter Zhan Tao WangGuido Filler

Abstract

Galloway-Mowat syndrome (GAMOS) (OMIM #251300) is a severe autosomal recessive disease characterized by the combination of early-onset steroid-resistant nephrotic syndrome (SRNS) and microcephaly with brain anomalies caused by WDR73 as well as OSGEP, TP53RK, TPRKB, or LAGE3 mutations. We report on the hitherto undescribed urological and nephrological complications of the homozygous c.974G>A (p.Arg325Gln) OSGEP mutations in a 7-year-old Caucasian girl. The patient came to the attention of pediatric nephrology at the age of 3 years and 11 months, when she presented with status epilepticus due to profound hypomagnesemia (0.31 mmol/L, normal 0.65-1.05). A 24-h urine demonstrated a magnesium loss of 0.6 mmol/kg/day with associated proteinuria suggesting renal tubulopathy. Subsequently, she developed recurrent urinary tract infections (UTIs) and was diagnosed with neurogenic bladder dysfunction. The patient continued to have UTIs associated with seizures and sequential cultures growing multi-drug-resistant organisms despite of antibiotic prophylaxis. In addition, the proteinuria (median microalbumin/creatinine ratio 647 mg/mmol) increased, and she developed partial Fanconi syndrome. At age 7, she developed a large bladder calculus (3...Continue Reading

References

Aug 16, 2003·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Guido Filler, Nathalie Lepage
Jun 25, 2005·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Elena Martín-HernándezJoaquín Arenas
Feb 1, 2012·Clinical Kidney Journal·Jeroen H F de BaaijRené J M Bindels
May 16, 2017·Child Neurology Open·Becky Biqi ChenGuido Filler
May 19, 2017·Biomedical Reports·Josef Finsterer, Fulvio Alexandre Scorza
Aug 15, 2017·Nature Genetics·Daniela A BraunFriedhelm Hildebrandt
Sep 12, 2017·Nature Reviews. Nephrology·Ellen F Carney

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Citations

Jan 31, 2019·Nucleic Acids Research·Valérie de Crécy-LagardJanusz M Bujnicki
Oct 20, 2021·Clinica Chimica Acta; International Journal of Clinical Chemistry·Hua TengLingqian Wu

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