Pseudo Parathyroid Function Impairment Disease In 3 Cases Of Clinical Analysis And Literature Review

Objective To analyse the false side by clinical symptoms, explore the pseudo beside a reduced patients clinical symptoms and related literature review. To improve the clinical and diagnostic key points of pseudo beside a minus.Methods Collected from January 1998 to October 1998 in fujian province hospital confirmed by clinical and laboratory of 3 cases of pseudo parathyroid function impairment in patients with clinical data, analysis of the clinical manifestations and characteristics, laboratory examination and imaging examination, diagnosis and treatment, etc., using statistical methods were retrospectively analyzed, and relevant literature review.Results Three subjects with PHP were investigated and studied.There were 2 males and 1female.The age of 3 Patients was from 23 to 27 years.The course of disease was from 2 to 10 years.3 cases had tetany seizures, merge gluteal muscle spasm in 1 case, combined facial tics in 1 case;Muscle soreness in 1 case,shortness of breath,and edema in 1 case.Lazy somnolence in 1 case,Developmental delays in 1 case;1 case had congenital dysplasia,that is Albright’s hereditary osteodystrophy(AHO):short stature,shields,round face,obesity,brachydactyly.Shortening of the 4th and 5th fingers(toes) was the characteristic sign.Cataract in 1 case.Hypocalcemia,hyperphosphatemia,increased parathyroid hormone(PTH) level were found in all cases.Radiologic features:shortening of the 4 th and 5 th metacar Palsinbothhands was found in1 ease.1 Patient had symmetrical calcification of basal ganglia. 1 patients with hyperthyroidism merger. Abnormal f1 ndings in electroencephalogram were found in 1 case. 1 patients had gene sequencing,it reminder that the patient of exon 1 a methylation is missing, for maternal gene imprinting defects.Conclusions PHP was rarely clinical genetic disease, now was consider associated with GNAS gene variants, the study found that for the X chromosome dominant inheritance, autosomal dominant or recessive inheritance.It is complex and varied in clinical patients, the misdiagnosis rate is high, when there is a repeated tetany, like epilepsy seizures and poorly controlled drugs and(or) genetic bone dystrophy Albright, hematuria is needed in blood calcium phosphorus, parathyroid hormone(PTH) and cranial imaging examination, early diagnosis, genetic testing conditions can be further.At present there is no special treatment, the disease tetany acute phase mainly to intravenous calcium supplements, stability and drug control the seizures, the acute phase need lifelong supplement calcium, vitamin D or its derivatives, diet to reduce high phosphorus food intake can relieve symptoms and prevent further progression.