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Kidney Cysts in Hypophosphatemic Rickets With Hypercalciuria: A Case Series
Christian Hanna1, Theodora A Potretzke2, Maroun Chedid3
1Division of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota.
Kidney Medicine
|April 7, 2022
Summary
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is linked to kidney cysts in 75% of patients with SLC34A3 variants. Elevated vitamin D and hypercalciuria may promote cyst development in this rare genetic disorder.
Area of Science:
- Nephrology
- Genetics
- Endocrinology
Background:
- Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare genetic disorder caused by SLC34A3 variants.
- HHRH is characterized by phosphate wasting, hypophosphatemia, hypercalciuria, elevated 1,25-dihydroxyvitamin D, nephrocalcinosis, and kidney stones.
- Previous studies indicated a high prevalence of kidney cysts in CYP24A1 deficiency, another cause of hypercalciuria.
Purpose of the Study:
- To investigate the presence and characteristics of kidney cysts in patients with HHRH.
- To explore potential shared cystogenic factors between HHRH and CYP24A1 deficiency.
Main Methods:
- A case series design was employed.
- Medical records from Mayo Clinic and the Rare Kidney Stone Consortium were reviewed for patients with genetically confirmed HHRH.
- Kidney cyst presence, number, size, and location were recorded.
Main Results:
- Twelve patients with SLC34A3 variants were identified (7 monoallelic, 5 biallelic).
- Kidney cysts were found in 9 of 12 (75%) patients, with a median age of 41 years at detection.
- Fifty percent of adult patients had a cyst burden exceeding controls; all children had multiple cysts.
Conclusions:
- A significant association exists between HHRH and kidney cyst formation.
- Elevated active vitamin D and hypercalciuria may be contributing factors to cyst development in HHRH.
- Further research is needed to elucidate the mechanisms by which SLC34A3 variants lead to cystogenesis.
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