Kidney Cysts in Hypophosphatemic Rickets With Hypercalciuria: A Case SeriesPlain-Language Summary
Rationale & Objective: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare monogenic disorder caused by SLC34A3 pathogenic variants. HHRH is characterized by kidney phosphate wasting, hypophosphatemia, hypercalciuria, an elevated 1,25-dihydroxyvitamin D level, nephrocalc...
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-03-01
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| Series: | Kidney Medicine |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2590059522000152 |
| _version_ | 1818992119695540224 |
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| author | Christian Hanna Theodora A. Potretzke Maroun Chedid Laureano J. Rangel Jennifer Arroyo Dalia Zubidat Peter J. Tebben Andrea G. Cogal Vicente E. Torres Peter C. Harris David J. Sas John C. Lieske Dawn S. Milliner Fouad T. Chebib |
| author_facet | Christian Hanna Theodora A. Potretzke Maroun Chedid Laureano J. Rangel Jennifer Arroyo Dalia Zubidat Peter J. Tebben Andrea G. Cogal Vicente E. Torres Peter C. Harris David J. Sas John C. Lieske Dawn S. Milliner Fouad T. Chebib |
| author_sort | Christian Hanna |
| collection | DOAJ |
| description | Rationale & Objective: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare monogenic disorder caused by SLC34A3 pathogenic variants. HHRH is characterized by kidney phosphate wasting, hypophosphatemia, hypercalciuria, an elevated 1,25-dihydroxyvitamin D level, nephrocalcinosis, and urinary stone disease. Previously, we reported a 100% prevalence of kidney cysts in the related CYP24A1 deficiency. Thus, in the current study, we characterized cysts’ presence in HHRH, another monogenic cause of hypercalciuria, nephrocalcinosis, and urinary stone disease. Study Design: Case series. Setting & Participants: Medical records from the Mayo Clinic and the Rare Kidney Stone Consortium monogenic stone disease database were queried for patients with a genetically confirmed HHRH diagnosis. The number, sizes, and locations of kidney cysts in each patient were recorded. Results: Twelve patients with SLC34A3 pathogenic variants were identified (7 monoallelic, 5 biallelic). Of these, 5 (42%) were males, and the median (Q1, Q3) ages were 16 years (13, 35 years) at clinical presentation and 42 years (20, 57 years) at genetic confirmation. Kidney cysts were present in 9 of 12 (75%) patients, and the median (Q1, Q3) age at first cyst detection was 41 years (13, 50 years). The median number of cysts per patient was 2.0 (0.5, 3.5). Fifty percent of adult patients had a cyst number that exceeded the 97.5th percentile of an age- and sex-matched control population. All children had at least 2 or more total cysts. None had a family history of cystic kidney disease. Limitations: Retrospective study, possible selection bias, single-center experience. Conclusions: A strong association between HHRH and kidney cysts was observed. Similarities in the biochemical profiles of HHRH and CYP24A1 deficiency suggest elevated active vitamin D and hypercalciuria may be potential cystogenic factors. Further studies are needed to understand how genetic changes in SLC34A3 favor cyst formation. |
| first_indexed | 2024-12-20T20:21:06Z |
| format | Article |
| id | doaj.art-fb2b003278e2450194649456f90f450b |
| institution | Directory Open Access Journal |
| issn | 2590-0595 |
| language | English |
| last_indexed | 2024-12-20T20:21:06Z |
| publishDate | 2022-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Kidney Medicine |
| spelling | doaj.art-fb2b003278e2450194649456f90f450b2022-12-21T19:27:35ZengElsevierKidney Medicine2590-05952022-03-0143100419Kidney Cysts in Hypophosphatemic Rickets With Hypercalciuria: A Case SeriesPlain-Language SummaryChristian Hanna0Theodora A. Potretzke1Maroun Chedid2Laureano J. Rangel3Jennifer Arroyo4Dalia Zubidat5Peter J. Tebben6Andrea G. Cogal7Vicente E. Torres8Peter C. Harris9David J. Sas10John C. Lieske11Dawn S. Milliner12Fouad T. Chebib13Division of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota; Address for Correspondence: Christian Hanna, MD, MS, Mayo Clinic, 200 First Street SW, Rochester, MN 55905.Division of Radiology, Mayo Clinic, Rochester, MinnesotaDivision of Nephrology and Hypertension, Mayo Clinic, Rochester, MinnesotaDepartment of Quantitative Health Research, Mayo Clinic, Rochester, MinnesotaDivision of Nephrology and Hypertension, Mayo Clinic, Rochester, MinnesotaDivision of Nephrology and Hypertension, Mayo Clinic, Rochester, MinnesotaDivision of Endocrinology, Mayo Clinic, Rochester, MinnesotaDivision of Nephrology and Hypertension, Mayo Clinic, Rochester, MinnesotaDivision of Nephrology and Hypertension, Mayo Clinic, Rochester, MinnesotaDivision of Nephrology and Hypertension, Mayo Clinic, Rochester, MinnesotaDivision of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, MinnesotaDivision of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MinnesotaDivision of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MinnesotaDivision of Nephrology and Hypertension, Mayo Clinic, Rochester, MinnesotaRationale & Objective: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare monogenic disorder caused by SLC34A3 pathogenic variants. HHRH is characterized by kidney phosphate wasting, hypophosphatemia, hypercalciuria, an elevated 1,25-dihydroxyvitamin D level, nephrocalcinosis, and urinary stone disease. Previously, we reported a 100% prevalence of kidney cysts in the related CYP24A1 deficiency. Thus, in the current study, we characterized cysts’ presence in HHRH, another monogenic cause of hypercalciuria, nephrocalcinosis, and urinary stone disease. Study Design: Case series. Setting & Participants: Medical records from the Mayo Clinic and the Rare Kidney Stone Consortium monogenic stone disease database were queried for patients with a genetically confirmed HHRH diagnosis. The number, sizes, and locations of kidney cysts in each patient were recorded. Results: Twelve patients with SLC34A3 pathogenic variants were identified (7 monoallelic, 5 biallelic). Of these, 5 (42%) were males, and the median (Q1, Q3) ages were 16 years (13, 35 years) at clinical presentation and 42 years (20, 57 years) at genetic confirmation. Kidney cysts were present in 9 of 12 (75%) patients, and the median (Q1, Q3) age at first cyst detection was 41 years (13, 50 years). The median number of cysts per patient was 2.0 (0.5, 3.5). Fifty percent of adult patients had a cyst number that exceeded the 97.5th percentile of an age- and sex-matched control population. All children had at least 2 or more total cysts. None had a family history of cystic kidney disease. Limitations: Retrospective study, possible selection bias, single-center experience. Conclusions: A strong association between HHRH and kidney cysts was observed. Similarities in the biochemical profiles of HHRH and CYP24A1 deficiency suggest elevated active vitamin D and hypercalciuria may be potential cystogenic factors. Further studies are needed to understand how genetic changes in SLC34A3 favor cyst formation.http://www.sciencedirect.com/science/article/pii/S2590059522000152Case seriesHHRHhypercalciuriahypophosphatemic rickets with hypercalciuriakidney cystnephrocalcinosis |
| spellingShingle | Christian Hanna Theodora A. Potretzke Maroun Chedid Laureano J. Rangel Jennifer Arroyo Dalia Zubidat Peter J. Tebben Andrea G. Cogal Vicente E. Torres Peter C. Harris David J. Sas John C. Lieske Dawn S. Milliner Fouad T. Chebib Kidney Cysts in Hypophosphatemic Rickets With Hypercalciuria: A Case SeriesPlain-Language Summary Kidney Medicine Case series HHRH hypercalciuria hypophosphatemic rickets with hypercalciuria kidney cyst nephrocalcinosis |
| title | Kidney Cysts in Hypophosphatemic Rickets With Hypercalciuria: A Case SeriesPlain-Language Summary |
| title_full | Kidney Cysts in Hypophosphatemic Rickets With Hypercalciuria: A Case SeriesPlain-Language Summary |
| title_fullStr | Kidney Cysts in Hypophosphatemic Rickets With Hypercalciuria: A Case SeriesPlain-Language Summary |
| title_full_unstemmed | Kidney Cysts in Hypophosphatemic Rickets With Hypercalciuria: A Case SeriesPlain-Language Summary |
| title_short | Kidney Cysts in Hypophosphatemic Rickets With Hypercalciuria: A Case SeriesPlain-Language Summary |
| title_sort | kidney cysts in hypophosphatemic rickets with hypercalciuria a case seriesplain language summary |
| topic | Case series HHRH hypercalciuria hypophosphatemic rickets with hypercalciuria kidney cyst nephrocalcinosis |
| url | http://www.sciencedirect.com/science/article/pii/S2590059522000152 |
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