RESUMO
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 2variantes 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 (AU)
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 (AU)
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Deficiência de Vitamina D/diagnóstico , Deficiência de Vitamina D/genética , Pseudo-Hipoparatireoidismo/diagnóstico , Pseudo-Hipoparatireoidismo/genética , Raquitismo Hipofosfatêmico/diagnóstico , Raquitismo Hipofosfatêmico/genéticaRESUMO
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.
Assuntos
Hipocalcemia , Pseudo-Hipoparatireoidismo , Deficiência de Vitamina D , Adolescente , Humanos , Hipocalcemia/diagnóstico , Hipocalcemia/etiologia , Hormônio Paratireóideo , Deficiência de Vitamina D/complicações , Pseudo-Hipoparatireoidismo/diagnóstico , Pseudo-Hipoparatireoidismo/genética , Pseudo-Hipoparatireoidismo/complicações , Vitamina D/uso terapêuticoAssuntos
Mosaicismo , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Cariótipo Anormal , Adolescente , Feminino , Hormônio Foliculoestimulante/sangue , Hormônios Esteroides Gonadais/sangue , Humanos , Hipogonadismo/sangue , Hipogonadismo/genética , Hormônio Luteinizante/sangue , Masculino , Modelos Genéticos , Fenótipo , Puberdade Tardia/sangue , Puberdade Tardia/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/sangue , Testículo/anormalidadesRESUMO
No disponible
Assuntos
Humanos , Feminino , Adolescente , Mosaicismo , Hirsutismo/diagnóstico , Hirsutismo/genética , Acne Vulgar/diagnóstico , Gônadas/diagnóstico por imagem , Gônadas/cirurgia , Estrogênios/uso terapêutico , Diferenciação Sexual/genéticaRESUMO
No disponible
Assuntos
Humanos , Feminino , Idoso , Insuficiência Cardíaca/etiologia , Neoplasias Ovarianas/complicações , Tumor Carcinoide/complicações , Derrame Pleural/complicaçõesRESUMO
No disponible
