title: A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass.
abstract: Mutations of the CYP24A1 gene, encoding for the enzyme 25(OH)D-24-hydroxylase, can cause hypercalcemia, hypercalciuria, nephrolithiasis and nephrocalcinosis. We report the case of a 22-year-old male patient with recurrent nephrolithiasis, nephrocalcinosis, hypercalcemia with low parathyroid hormone levels, hypercalciuria and low bone mass. Gene sequencing showed that the patient had compound heterozygous mutations including a novel genotype of the CYP24A1 gene. Genetic CYP24A1 testing and biochemical analyses were offered to other family members; the father was heterozygous for the same novel genotype and was also affected with recurrent nephrolithiasis.
authors.affiliation: Division of Nephrology, Institute of Internal Medicine and Geriatrics, Fondazione Policlinico Universitario A. Gemelli, Catholic University of the Sacred Heart, 00168, Rome, Italy. pietromanuel.ferraro@unicatt.it.
authors.forename: Pietro Manuel
authors.identifier: http://orcid.org/0000-0002-1379-022X
authors.initials: PM
authors.lastname: Ferraro
authors.affiliation: Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Fondazione Policlinico Universitario A. Gemelli, Catholic University of the Sacred Heart, Rome, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Minucci
authors.affiliation: Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Fondazione Policlinico Universitario A. Gemelli, Catholic University of the Sacred Heart, Rome, Italy.
authors.forename: Aniello
authors.initials: A
authors.lastname: Primiano
authors.affiliation: Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Fondazione Policlinico Universitario A. Gemelli, Catholic University of the Sacred Heart, Rome, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: De Paolis
authors.affiliation: Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Fondazione Policlinico Universitario A. Gemelli, Catholic University of the Sacred Heart, Rome, Italy.
authors.forename: Jacopo
authors.initials: J
authors.lastname: Gervasoni
authors.affiliation: Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Fondazione Policlinico Universitario A. Gemelli, Catholic University of the Sacred Heart, Rome, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Persichilli
authors.affiliation: Division of Nephrology, Institute of Internal Medicine and Geriatrics, Fondazione Policlinico Universitario A. Gemelli, Catholic University of the Sacred Heart, 00168, Rome, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Naticchia
authors.affiliation: Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Fondazione Policlinico Universitario A. Gemelli, Catholic University of the Sacred Heart, Rome, Italy.
authors.forename: Ettore
authors.initials: E
authors.lastname: Capoluongo
authors.affiliation: Division of Nephrology, Institute of Internal Medicine and Geriatrics, Fondazione Policlinico Universitario A. Gemelli, Catholic University of the Sacred Heart, 00168, Rome, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Gambaro
mesh_terms: D000328:Adult; D002130:Calcium Phosphates / Q000737:chemistry; D005838:Genotype; D006801:Humans; D006934:Hypercalcemia / Q000097:blood / Q000235:genetics* / Q000652:urine; D053565:Hypercalciuria / Q000097:blood / Q000235:genetics* / Q000652:urine; D007668:Kidney / Q000378:metabolism; D007669:Kidney Calculi / Q000737:chemistry; D008297:Male; D009154:Mutation; D009397:Nephrocalcinosis / Q000097:blood / Q000000981:diagnostic imaging / Q000235:genetics* / Q000652:urine; D053040:Nephrolithiasis / Q000097:blood / Q000000981:diagnostic imaging / Q000235:genetics* / Q000652:urine; D010024:Osteoporosis / Q000097:blood / Q000235:genetics* / Q000652:urine; D010281:Parathyroid Hormone / Q000097:blood; D010375:Pedigree; D012008:Recurrence; D065667:Renal Elimination; D017422:Sequence Analysis, DNA; D014057:Tomography, X-Ray Computed; D065668:Vitamin D3 24-Hydroxylase / Q000235:genetics*; D055815:Young Adult
chemical_list: D002130:Calcium Phosphates; D010281:Parathyroid Hormone; C585549:CYP24A1 protein, human; D065668:Vitamin D3 24-Hydroxylase; C494366:calcium phosphate, dibasic, dihydrate
keywords: Genetics; Hypercalciuria; Osteoporosis; Urolithiasis; Vitamin D