Vitamin D deficiency in adulthood: Presentation of 2familial cases simulating pseudohypoparathyroidism

The clinical and biochemical overlap of various pathologies of phosphocalcic metabolism can lead to misdiagnosis and consequent clinical management. One example is pseudohypoparathyroidism, which can be confused with vitamin D-dependent rickets (VDDR1) if appropriate biochemical determinations are n...

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Bibliographic Details
Published inMedicina clinica Vol. 161; no. 11; p. 493
Main Authors Manero-Azua, África, Pereda, Arrate, González Cabrera, Natalia, Martínez de Salinas Santamaría, M Ángeles, Cámara Balda, Alejandro, Pérez de Nanclares, Guiomar
Format Journal Article
LanguageEnglish
Published Spain 07.12.2023
Subjects
Adolescent
Humans
Hypocalcemia - diagnosis
Hypocalcemia - etiology
Parathyroid Hormone
Pseudohypoparathyroidism - complications
Pseudohypoparathyroidism - diagnosis
Pseudohypoparathyroidism - genetics
Vitamin D - therapeutic use
Vitamin D Deficiency - complications
CYP27B1
Vitamin D-dependent rickets
Adultos
Vitamin D
Enfermedades por inactivación de la vía de señalización PTH/PTHrP
Inactivating PTH/PTHrP signaling disorders
Pseudohypoparathyroidism
Raquitismo dependiente de vitamina D
Seudohipoparatiroidismo
Adults
Vitamina D
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Summary:The clinical and biochemical overlap of various pathologies of phosphocalcic metabolism can lead to misdiagnosis and consequent clinical management. One example is pseudohypoparathyroidism, which can be confused with vitamin D-dependent rickets (VDDR1) if appropriate biochemical determinations are not performed. Two pairs of siblings, from independent families, were clinically diagnosed in adolescence with pseudohypoparathyroidism due to hypocalcaemia, elevated parathyroid hormone levels and normal or elevated phosphorus values. After ruling out alterations in GNAS, a massive sequencing study of genes associated with other differential diagnoses was carried out. Two genetic variants in the CYP27B1 gene potentially associated with the phenotype were identified. Pathogenic variants in this gene are associated with VDDR1A. Clinical-biochemical re-evaluation of the patients confirmed this diagnosis and treatment was adapted. Although VDDR1A is an infrequently diagnosed pathology in adulthood, in cases of hypocalcaemia with elevated PTH values, determination of the 1,25(OH) D and 25(OH)D forms of vitamin D is relevant to reach a correct diagnosis.
ISSN:1578-8989