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

Autor: Dodamani MH; Department of Endocrinology, Seth G.S Medical College & KEM Hospital, OPD, Parel, Mumbai, Maharashtra, 400012, India., Memon SS; Department of Endocrinology, Seth G.S Medical College & KEM Hospital, OPD, Parel, Mumbai, Maharashtra, 400012, India. sabasamadmemon@gmail.com., Karlekar M; Department of Endocrinology, Seth G.S Medical College & KEM Hospital, OPD, Parel, Mumbai, Maharashtra, 400012, India., Lila AR; Department of Endocrinology, Seth G.S Medical College & KEM Hospital, OPD, Parel, Mumbai, Maharashtra, 400012, India., Khan M; Department of Endocrinology, Brown University, 375 Wampanoag Trail, Providence, RI, 02913, USA.; Section Endocrinology and Metabolism, Yale University School of Medicine, Anlyan Center, Office S117, Lab S110, 1 Gilbert Street, New Haven, CT, 06519, USA., Sarathi V; Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bengaluru, Karnataka, India., Arya S; Department of Endocrinology, Seth G.S Medical College & KEM Hospital, OPD, Parel, Mumbai, Maharashtra, 400012, India., Jamale T; Department of Nephrology, Seth G.S Medical College & KEM Hospital, Mumbai, Maharashtra, India., Thakare S; Department of Nephrology, Seth G.S Medical College & KEM Hospital, Mumbai, Maharashtra, India., Patil VA; Department of Endocrinology, Seth G.S Medical College & KEM Hospital, OPD, Parel, Mumbai, Maharashtra, 400012, India., Shah NS; Department of Endocrinology, Seth G.S Medical College & KEM Hospital, OPD, Parel, Mumbai, Maharashtra, 400012, India., Bergwitz C; Section Endocrinology and Metabolism, Yale University School of Medicine, Anlyan Center, Office S117, Lab S110, 1 Gilbert Street, New Haven, CT, 06519, USA., Bandgar TR; Department of Endocrinology, Seth G.S Medical College & KEM Hospital, OPD, Parel, Mumbai, Maharashtra, 400012, India.
Jazyk: angličtina
Zdroj: Calcified tissue international [Calcif Tissue Int] 2024 Feb; Vol. 114 (2), pp. 137-146. Date of Electronic Publication: 2023 Nov 19.
DOI: 10.1007/s00223-023-01156-2
Abstrakt: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare disorder of phosphate homeostasis. We describe a single-center experience of genetically proven HHRH families and perform systematic review phenotype-genotype correlation in reported biallelic probands and their monoallelic relatives. Detailed clinical, biochemical, radiological, and genetic data were retrieved from our center and a systematic review of Pub-Med and Embase databases for patients and relatives who were genetically proven. Total of nine subjects (probands:5) carrying biallelic SLC34A3 mutations (novel:2) from our center had a spectrum from rickets/osteomalacia to normal BMD, with hypophosphatemia and hypercalciuria in all. We describe the first case of genetically proven HHRH with enthesopathy. Elevated FGF23 in another patient with hypophosphatemia, iron deficiency anemia, and noncirrhotic periportal fibrosis led to initial misdiagnosis as tumoral osteomalacia. On systematic review of 58 probands (with biallelic SLC34A3 mutations; 35 males), early-onset HHRH and renal calcification were present in ~ 70% and late-onset HHRH in 10%. c.575C > T p.(Ser192Leu) variant occurred in 53% of probands without skeletal involvement. Among 110 relatives harboring monoallelic SLC34A3 mutation at median age 38 years, renal calcification, hypophosphatemia, high 1,25(OH) 2 D, and hypercalciuria were observed in ~30%, 22.3%, 40%, and 38.8%, respectively. Renal calcifications correlated with age but were similar across truncating and non-truncating variants. Although most relatives were asymptomatic for bone involvement, 6/12(50%) had low bone mineral density. We describe the first monocentric HHRH case series from India with varied phenotypes. In a systematic review, frequent renal calcifications and low BMD in relatives with monoallelic variants (HHRH trait) merit identification.
(© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
Databáze: MEDLINE
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