Research & Literature

Rare inherited disorders with renal involvement-approach to the patient.

Joly D, Béroud C, Grünfeld JP

Kidney international 2015; (87(5)):901-8 doi:10.1038/ki.2014.432.

Hypercalcemic Disorders in Children.

Stokes VJ, Nielsen MF, Hannan FM, Thakker RV

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2017; (32(11)):2157-2170 doi:10.1002/jbmr.3296.

Renal phosphate handling and inherited disorders of phosphate reabsorption: an update.

Wagner CA, Rubio-Aliaga I, Hernando N

Pediatric nephrology (Berlin, Germany) 2019; (34(4)):549-559 doi:10.1007/s00467-017-3873-3.

SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria

Hasani-Ranjbar S, Ejtahed HS, Amoli MM, et al.

Journal of clinical research in pediatric endocrinology 2018; (10(4)):343-349 doi:10.4274/jcrpe.0057.

Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.

Bergwitz C, Miyamoto KI

Pflugers Archiv : European journal of physiology 2019; (471(1)):149-163 doi:10.1007/s00424-018-2184-2.

Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting.

Schönauer R, Petzold F, Lucinescu W, et al.

Urolithiasis 2019; (47(6)):511-519 doi:10.1007/s00240-019-01116-2.

Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH

Tang AR, Hinz LE, Khan A, Kline GA

Endocrinology, diabetes & metabolism case reports 2019; (2019(1)):1-6 doi:10.1530/EDM-19-0058.

Multidisciplinary patient care in X-linked hypophosphatemic rickets: one challenge, many perspectives.

Raimann A, Mindler GT, Kocijan R, et al.

Wiener medizinische Wochenschrift (1946) 2020; (170(5-6)):116-123 doi:10.1007/s10354-019-00732-2.

[Clinical feature and variant analysis of a case with hereditary hypophosphatemic rickets with hypercalciuria].

Liu L, Gao X, Ma Y, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020; (37(6)):637-640 doi:10.3760/cma.j.issn.1003-9406.2020.06.010.

HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA: A NOVEL HOMOZYGOUS MUTATION IN SLC34A3 AND LITERATURE REVIEW.

Bhadada SK, Sridhar S, Dhiman V, et al.

AACE clinical case reports 2020; (6(3)):e105-e112 doi:10.4158/ACCR-2019-0456.

Metabolic risk factors in children with kidney stone disease: an update.

Spivacow FR, Del Valle EE, Boailchuk JA, et al.

Pediatric nephrology (Berlin, Germany) 2020; (35(11)):2107-2112 doi:10.1007/s00467-020-04660-x.

Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction.

Colazo JM, Reasoner SA, Holt G, et al.

Case reports in endocrinology 2020; (2020()):1047327 doi:10.1155/2020/1047327.

Potassium citrate vs. hydrochlorothiazide to reduce urinary calcium excretion in calcium oxalate stone patients with hypercalciuria: a prospective randomized study.

Solak V, Gökce Mİ, Yaman Ö

International urology and nephrology 2021; (53(9)):1791-1796 doi:10.1007/s11255-021-02879-7.

X-Linked Hypophosphatemic Rickets: Multisystemic Disorder in Children Requiring Multidisciplinary Management.

Baroncelli GI, Mora S

Frontiers in endocrinology 2021; (12()):688309 doi:10.3389/fendo.2021.688309.

Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature.

Christensen S, Tebben PJ, Sas D, Creo AL

Hormone research in paediatrics 2021; (94(9-10)):374-389 doi:10.1159/000520299.

Rickets guidance: part II-management.

Haffner D, Leifheit-Nestler M, Grund A, Schnabel D

Pediatric nephrology (Berlin, Germany) 2022; (37(10)):2289-2302 doi:10.1007/s00467-022-05505-5.

Current challenges and opportunities in the care of patients with fibrodysplasia ossificans progressiva (FOP): an international, multi-stakeholder perspective.

Pignolo RJ, Bedford-Gay C, Cali A, et al.

Orphanet journal of rare diseases 2022; (17(1)):168 doi:10.1186/s13023-022-02224-w.

Growth hormone therapy in HHRH.

Filler G, Schott C, Salerno FR, et al.

Bone reports 2022; (16()):101591 doi:10.1016/j.bonr.2022.101591.

Clinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria (HHRH).

Stürznickel J, Heider F, Delsmann A, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2022; (37(8)):1580-1591 doi:10.1002/jbmr.4630.

Whole Body, Whole Life, Whole Family: Patients' Perspectives on X-Linked Hypophosphatemia.

Hamilton AA, Faitos S, Jones G, et al.

Journal of the Endocrine Society 2022; (6(8)):bvac086 doi:10.1210/jendso/bvac086.

Carer burden in rare inherited diseases: a literature review and conceptual model.

Sandilands K, Williams A, Rylands AJ

Orphanet journal of rare diseases 2022; (17(1)):428 doi:10.1186/s13023-022-02561-w.

SLC34A3 GENE MUTATION AS A RARE CAUSE OF HYPOPHOSPHATEMIA IN TWO SIBLINGS.

Karakilic-Ozturan E, Ozturk AP, Oney C, et al.

Acta endocrinologica (Bucharest, Romania : 2005) 2022; (18(3)):387-391 doi:10.4183/aeb.2022.387.

Novel Variant of SLC34A3 in a Compound Heterozygous Brazilian Girl with Hereditary Hypophosphatemic Rickets with Hypercalciuria

Valadares LP, de Carvalho DR

Journal of clinical research in pediatric endocrinology 2025; (17(3)):326-331 doi:10.4274/jcrpe.galenos.2023.2023-5-2.

Genu Valgum, Fractures, and Renal Stones in a 10-year-old Girl.

Christensen S, Loomba LA

JCEM case reports 2023; (1(1)):luac022 doi:10.1210/jcemcr/luac022.

Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review.

Dodamani MH, Memon SS, Karlekar M, et al.

Calcified tissue international 2024; (114(2)):137-146 doi:10.1007/s00223-023-01156-2.

Inherited non-FGF23-mediated phosphaturic disorders: A kidney-centric review.

Walker E, Hayes W, Bockenhauer D

Best practice & research. Clinical endocrinology & metabolism 2024; (38(2)):101843 doi:10.1016/j.beem.2023.101843.

An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).

Zhu Z, Bo-Ran Ho B, Chen A, et al.

Kidney international 2024; (105(5)):1058-1076 doi:10.1016/j.kint.2024.01.031.

Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets.

Baroncelli GI, Grandone A, Aversa A, et al.

European journal of medical genetics 2024; (70()):104958 doi:10.1016/j.ejmg.2024.104958.

Presentation and outcome in carriers of pathogenic variants in SLC34A1 and SLC34A3 encoding sodium-phosphate transporter NPT 2a and 2c.

Brunkhorst M, Brunkhorst L, Martens H, et al.

Kidney international 2025; (107(1)):116-129 doi:10.1016/j.kint.2024.08.035.

Thiazide diuretics for preventing calcium oxalate recurrent kidney stones: an updated systematic review, meta-analysis and trial sequential analysis of randomized controlled trials.

Porto BC, Terada BD, Gonçalves FG, et al.

Minerva urology and nephrology 2025; (77(3)):298-307 doi:10.23736/S2724-6051.25.05903-8.

Hereditary Hypophosphatemic Rickets with Hypercalciuria-Importance of Further Evaluation when Clinical Suspicion is Strong

Wettasinghe CA, Kumarasiri IM, Vidushajini M, et al.

Journal of clinical research in pediatric endocrinology 2026; (18(3)):549-553 doi:10.4274/jcrpe.galenos.2025.2025-1-15.

Refractory Rickets: Evaluation and Management.

Krishnamurthy S

Indian journal of pediatrics 2026; (93(6)):612-620 doi:10.1007/s12098-026-06032-z.

Composite Phenotype: Recurrent Nephrolithiasis and Chronic Kidney Disease in an Adult with Biallelic <italic>SLC34A3</italic> and Monoallelic <italic>SLC3A1</italic> Pathogenic Variants - Who Is "The Culprit"?

Olarewaju BA, Sabrowsky S, Shurrab S, et al.

Kidney & blood pressure research 2026; (51(1)):280-284 doi:10.1159/000551270.

Two variants in SLC34A3 in a patient with X-linked hypophosphatemia: a diagnostic and therapeutic dilemma.

Sharova M, Klimova E, Filatova A, et al.

Pediatric nephrology (Berlin, Germany) 2026; doi:10.1007/s00467-026-07520-2.

Late diagnosis of SLC34A3-related hereditary hypophosphatemic osteomalacia following a low-energy proximal humeral 4-part fracture.

Morimoto T

JBMR plus 2026; (10(10)):ziag137 doi:10.1093/jbmrpl/ziag137.