Pseudo Hypoparathyroidism: Clinical and Genetic Study
|Keywords||pseudohypoparathyroidism GNASl gene calcium/phosphorus retrospective analysis methylation specific polymerase chain reaction|
Background and Objective Pseudohypoparathyroidism is a complex genetic disease,clinically less met, and each type of diverse clinical manifestations of this disease,clinicians are less well understood, it is sometimes difficult to undiagnosed ormisdiagnosed easily. Discussion of pseudohypoparathyroidism pathogenesis, geneticfeatures, understand the diagnosis, clinical manifestations and treatment. To improvethe understanding of the disease.Methods A retrospective analysis of1cases by clinical, laboratory confirmed cases,and review of the literature. Our hospital has treated1cases of patients with PHPgenomic DNA extraction, using the polymerase chain reaction (PCR) and directsequencing of GNASl gene exon1.13mutations, methylation specific polymerasechain reaction (MSP) and direct sequencing method for the detection of the gene ofthree DMRs region methylation status, at the same time dynamic monitoring thehemoglobin, biochemical, hormone level. Discussion on PHP clinical presentationand genetic features.Result1. During the courses of patients with serum calcium, PTH fluctuationsobviously, spontaneous normalization may be.2. Some AHO features, such as short stature, growth retardation, brachydactyly, X-rayand4,5metacarpal uneven shorter, metacarpal head end is wide, there are specific3. The patient also has diarrhea, anemia, heart failure, pulmonary hypertension,bronchiectasis, lumbar fracture lumbar sacralization and other organ abnormality,associated with multiple endocrine dysfunction （high PTH, hypergonadotropichypogonadism, high ACTH and adrenal hypoplasia)4. The patients of GNASl gene exon13mutation was found, the existence of itspromoter region IA methylation loss. In NESP55and XLa two DMR region, noabnormal methylation (normal imprinting).Conclusions1pseudo hypoparathyroidism clinical rare, but according to thelaboratory examination of hypocalcemia, hyperphosphatemia, parathyroid hormone(PTH) content increased and Y line of specific performance, combined with PTH test and clinical manifestations can be diagnosed. Another result of serum calcium,PTH spontaneous normalization may be, to meet a high index of suspicion when apatient, should be repeated correlation detection2PHP patients with AHO malformation may not exist in GNASl1-13gene exonmutations, that is to say the presence of1A hypermethylation of deletions of thePHPIb type may also occur in patients of AHO malformation.3for the G protein alpha subunits activity decreased, and G protein in vivo are widelydistributed, PHP patients can exist in multiple hormone (PTH, hCG, ACTH)resistance, accompanied by multiple organ involvement, such as skeletal dysplasia(lumbar fracture, lumbar sacralization), anemia, heart failure, pulmonaryhypertension,, bronchiectasis, pulmonary bulla. Tips for type Ib patients, as there maybe Gsa activity reduce.In4patients with typical symptomatic hypocalcemia before it has been in the PTHresistance, when the child patients in the presence of growth retardation, and anemia,diarrhea, multiple organ development, to consider PHP may.