Clinical characteristics and genetic analysis of familial hypocalciuric hypercalcemia type 1 / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
;
(12): 161-164, 2022.
Artículo
en Chino
| WPRIM
| ID: wpr-933384
ABSTRACT
A case of familial hypocalciuric hypercalcemia type 1 (FHH1) was reported detailing the course of diagnosis and treatment. The main clinical manifestations of the patient were recurrent pancreatitis with moderate hypercalcemia and low urinary calcium. The C→T heterozygous missense mutation at nucleotide 2 393 with conversion of codon Pro798 to Leu (p.P155L) in CaSR gene was identified. Serum calcium and parathyroid hormone levels of the patient were decreased significantly after treatment with cinacalcet.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Tipo de estudio:
Estudio pronóstico
Idioma:
Chino
Revista:
Chinese Journal of Endocrinology and Metabolism
Año:
2022
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS