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Glomerular involvement in children with H syndrome.
Odeya David1,2, Michael Geylis3,4, Eyal Kristal5,3
1Pediatric Ambulatory Service, Saban Pediatric Medical Center for Israel, Soroka University Medical Center, Beer-Sheva, Israel. odeyadav@clalit.org.il.
Pediatric Nephrology (Berlin, Germany)
|January 2, 2021
Summary
H syndrome, a genetic disorder, can manifest with kidney issues like nephrotic syndrome and glomerulopathy. Early detection through regular screenings is crucial for managing this rare multisystem inflammatory disease.
Area of Science:
- Genetics
- Nephrology
- Rare Diseases
Background:
- H syndrome is a rare multisystem inflammatory disorder.
- It stems from mutations in the SLC29A3 gene, affecting the hENT3 nucleoside transporter.
- Key features include hyperpigmentation, organomegaly, and skeletal issues.
Purpose of the Study:
- To investigate the renal manifestations of H syndrome.
- To highlight the clinical presentation of nephrotic syndrome in affected individuals.
- To emphasize the importance of renal monitoring in H syndrome patients.
Main Methods:
- Case report of three family members with genetically confirmed H syndrome.
- Clinical evaluation including laboratory tests, kidney ultrasound, and kidney biopsy.
- Analysis of treatment responses to ACE inhibitors, corticosteroids, and immunomodulatory agents.
Main Results:
- Two patients presented with hypoalbuminemia and nephrotic-range proteinuria.
- Kidney biopsy in one patient revealed membranous nephropathy.
- Standard treatments did not improve the clinical outcome, indicating potential challenges in managing renal complications.
Conclusions:
- Generalized peripheral pitting edema and glomerulopathy are significant additions to the H syndrome clinical spectrum.
- These findings underscore the need for vigilant renal surveillance in H syndrome.
- Regular bloodwork and urinalysis are recommended for early detection and management of kidney involvement.
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