دورية أكاديمية
أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان: An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).
المؤلفون: Zhu Z; Department of Internal Medicine, Section of Endocrinology, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Urology, Xiangya Hospital, Central South University, Changsha, Hunan, China., Bo-Ran Ho B; Department of Internal Medicine, Section of Endocrinology, Yale University School of Medicine, New Haven, Connecticut, USA., Chen A; Department of Internal Medicine, Section of Endocrinology, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Otolaryngology, Harvard Medical School, Boston, Massachusetts, USA., Amrhein J; Pediatric Endocrinology and Diabetes, School of Medicine Greenville Campus, University of South Carolina, Greenville, South Carolina, USA., Apetrei A; Caen University Hospital, Department of Genetics, UR7450 Biotargen, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, OSCAR Network, Caen, France., Carpenter TO; Department of Internal Medicine, Section of Endocrinology, Yale University School of Medicine, New Haven, Connecticut, USA., Lazaretti-Castro M; Division of Endocrinology, Escola Paulista de Medicina-Universidade Federal de Sao Paulo (EPM-UNIFESP), Sao Paulo, Brazil., Colazo JM; Department of Biomedical Engineering, Vanderbilt University, Nashville, Tennessee, USA., McCrystal Dahir K; Division of Endocrinology, Program for Metabolic Bone Disorders, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Geßner M; Pediatric Nephrology, Children's and Adolescents' Hospital, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Gurevich E; Schneider Children's Medical Center of Israel, Pediatric Nephrology Institute, Petach Tikva, Israel; Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel., Heier CA; Children's Department, Oslo University Hospital, Oslo, Norway., Simmons JH; Department of Pediatrics, Division of Endocrinology and Diabetes, Vanderbilt University School of Medicine, Vanderbilt University, Nashville, Tennessee, USA., Hunley TE; Division of Pediatric Nephrology, Vanderbilt University Medical Center, Monroe Carell Jr Children's Hospital at Vanderbilt, Nashville, Tennessee, USA., Hoppe B; Division of Pediatric Nephrology, Department of Pediatrics, University of Bonn, Bonn, Germany., Jacobsen C; Division of Endocrinology, Harvard Medical School, Boston, Massachusetts, USA., Kouri A; Pediatric Nephrology, University of Minnesota, Minneapolis, Minnesota, USA., Ma N; Section of Pediatric Endocrinology, Children's Hospital Colorado, Aurora, Colorado, USA; Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA., Majumdar S; Department of Internal Medicine, Section of Endocrinology, Yale University School of Medicine, New Haven, Connecticut, USA., Molin A; Caen University Hospital, Department of Genetics, UR7450 Biotargen, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, OSCAR Network, Caen, France., Nokoff N; Department of Pediatrics, Section of Endocrinology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Ott SM; Department of Medicine, University of Washington, Seattle, Washington, USA., Peña HG; Department of Pediatrics, Hospital Universitario Central de Asturias (HUCA), Oviedo, Spain., Santos F; Department of Pediatrics, Hospital Universitario Central de Asturias (HUCA), Oviedo, Spain., Tebben P; Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Mayo Clinic, Rochester, Minnesota, USA; Division of Pediatric Endocrinology, Mayo Clinic, Rochester, Minnesota, USA., Topor LS; Division of Pediatric Endocrinology, Hasbro Children's Hospital, Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA., Deng Y; Yale School of Public Health, New Haven, Connecticut, USA., Bergwitz C; Department of Internal Medicine, Section of Endocrinology, Yale University School of Medicine, New Haven, Connecticut, USA. Electronic address: clemens.bergwitz@yale.edu.
المصدر: Kidney international [Kidney Int] 2024 May; Vol. 105 (5), pp. 1058-1076. Date of Electronic Publication: 2024 Feb 15.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE
أسماء مطبوعة: Publication: 2016- : New York : Elsevier
Original Publication: New York, Springer-Verlag.
مواضيع طبية MeSH: Familial Hypophosphatemic Rickets*/complications , Familial Hypophosphatemic Rickets*/diagnosis , Familial Hypophosphatemic Rickets*/drug therapy , Hypophosphatemia*, Humans ; Hypercalciuria/diagnosis ; Hypercalciuria/drug therapy ; Hypercalciuria/genetics ; Kidney/metabolism ; Phosphates ; Sodium-Phosphate Cotransporter Proteins, Type IIc/genetics ; Sodium-Phosphate Cotransporter Proteins, Type IIc/metabolism
مستخلص: Pathogenic variants in solute carrier family 34, member 3 (SLC34A3), the gene encoding the sodium-dependent phosphate cotransporter 2c (NPT2c), cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Here, we report a pooled analysis of clinical and laboratory records of 304 individuals from 145 kindreds, including 20 previously unreported HHRH kindreds, in which two novel SLC34A3 pathogenic variants were identified. Compound heterozygous/homozygous carriers show above 90% penetrance for kidney and bone phenotypes. The biochemical phenotype for heterozygous carriers is intermediate with decreased serum phosphate, tubular reabsorption of phosphate (TRP (%)), fibroblast growth factor 23, and intact parathyroid hormone, but increased serum 1,25-dihydroxy vitamin D, and urine calcium excretion causing idiopathic hypercalciuria in 38%, with bone phenotypes still observed in 23% of patients. Oral phosphate supplementation is the current standard of care, which typically normalizes serum phosphate. However, although in more than half of individuals this therapy achieves correction of hypophosphatemia it fails to resolve the other outcomes. The American College of Medical Genetics and Genomics score correlated with functional analysis of frequent SLC34A3 pathogenic variants in vitro and baseline disease severity. The number of mutant alleles and baseline TRP (%) were identified as predictors for kidney and bone phenotypes, baseline TRP (%) furthermore predicted response to therapy. Certain SLC34A3/NPT2c pathogenic variants can be identified with partial responses to therapy, whereas with some overlap, others present only with kidney phenotypes and a third group present only with bone phenotypes. Thus, our report highlights important novel clinical aspects of HHRH and heterozygous carriers, raises awareness to this rare group of disorders and can be a foundation for future studies urgently needed to guide therapy of HHRH.
(Copyright © 2024 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.)
التعليقات: Erratum in: Kidney Int. 2024 Jul;106(1):159. doi: 10.1016/j.kint.2024.05.005. (PMID: 38906648)
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معلومات مُعتمدة: UL1 TR001863 United States TR NCATS NIH HHS
فهرسة مساهمة: Keywords: HHRH; SLC34A3; phosphate therapy; renal calcifications
المشرفين على المادة: 0 (Phosphates)
0 (Sodium-Phosphate Cotransporter Proteins, Type IIc)
تواريخ الأحداث: Date Created: 20240216 Date Completed: 20240422 Latest Revision: 20240621
رمز التحديث: 20240622
مُعرف محوري في PubMed: PMC11106756
DOI: 10.1016/j.kint.2024.01.031
PMID: 38364990
قاعدة البيانات: MEDLINE
الوصف
تدمد:1523-1755
DOI:10.1016/j.kint.2024.01.031