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Vol. 161. Issue 11.
Pages 493-497 (December 2023)
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Vol. 161. Issue 11.
Pages 493-497 (December 2023)
Clinical report
Vitamin D deficiency in adulthood: Presentation of 2 familial cases simulating pseudohypoparathyroidism
Deficiencia de vitamina D en la edad adulta: presentación de 2 casos familiares de seudohipoparatiroidismo
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África Manero-Azuaa, Arrate Peredaa, Natalia González Cabrerab, M. Ángeles Martínez de Salinas Santamaríac, Alejandro Cámara Baldac, Guiomar Pérez de Nanclaresa,
Corresponding author
gnanclares@osakidetza.eus

Corresponding author.
a Grupo de Investigación en Enfermedades Raras, Laboratorio de (epi) Genética Molecular, Instituto de Investigación Sanitaria Bioaraba, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Álava, Spain
b Servicio de Endocrinología y Nutrición, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Álava, Spain
c Servicio de Endocrinología y Nutrición, Hospital de San Pedro, Logroño, La Rioja, Spain
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Table 1. Summary of calcium and phosphorus metabolism data at the time of the patients’ visit to the clinic.
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Abstract
Background and objective

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.

Patients and methods

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.

Results

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.

Conclusions

Although VDDR1A is an infrequently diagnosed pathology in adulthood, in cases of hypocalcaemia with elevated PTH values, determination of the 1,25(OH)2D3 and 25(OH)D3 forms of vitamin D is relevant to reach a correct diagnosis.

Keywords:
Vitamin D-dependent rickets
Inactivating PTH/PTHrP signaling disorders
Pseudohypoparathyroidism
Vitamin D
CYP27B1
Adults
Resumen
Antecedentes y objetivo

El solapamiento clínico y bioquímico de diversas enfermedades del metabolismo fosfocálcico puede conllevar un erróneo diagnóstico y su consecuente abordaje clínico. Un ejemplo es el seudohipoparatiroidismo, que puede confundirse con el raquitismo dependiente de vitamina D (VDDR1) si no se hacen las determinaciones bioquímicas adecuadas.

Pacientes y métodos

Dos parejas de hermanos, de familias independientes, fueron diagnosticados clínicamente en la adolescencia de seudohipoparatiroidismo al presentar hipocalcemia, niveles elevados de hormona paratiroidea y valores normales o elevados de fósforo. Tras descartar alteraciones en GNAS, se realizó un estudio, mediante secuenciación masiva, de genes asociados a otros diagnósticos diferenciales.

Resultados

Se identificaron 2 variantes genéticas en el gen CYP27B1 potencialmente asociadas con el fenotipo. Variantes patogénicas en este gen se asocian con VDDR1A. La reevaluación clínica-bioquímica de los pacientes confirmó dicho diagnóstico y se adecuó el tratamiento.

Conclusiones

Si bien la VDDR1A es un trastorno del metabolismo de diagnóstico infrecuente en la edad adulta, en casos de hipocalcemia con valores elevados de PTH es relevante la determinación de las formas 1,25(OH)2D3 y 25(OH)D3 de la vitamina D para alcanzar un diagnóstico correcto.

Palabras clave:
Raquitismo dependiente de vitamina D
Enfermedades por inactivación de la vía de señalización PTH/PTHrP
Seudohipoparatiroidismo
Vitamina D
CYP27B1
Adultos

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