Clinical Analysis Of 35 Cases Of Pseudohypoparathyroidism

Background and ObjectivePseudohypoparathyroidism(PHP)is a rare genetic disease that may be easily misdiagnosed.In recent years,studies on molecular genetics have made remarkable progress,but the pathogenesis of some subtypes is not completely clear,the clinical features of various subtypes showed a certain degree of overlap,and atypical features have been reported more and more often,thus the traditional diagnostic criteria and classification method are facing challenges.To analyze the clinical characteristics,diagnosis and treatment of pseudohypoparathyroidism in order to improve clinician's understanding of this disease and to reduce the misdiagnosis rate.Subiects and MethodThe clinical characteristics of 35 cases of pseudohypoparathyroidism were analyzed.These 35 cases(including 23 male and 12 female patients)were collected from all the patients in our department and pediatrics department in the recent 6 years.ResultThe disease course of the 35 patients ranged from 10 hours to 30 years.Tetany or epilepsy-like symptoms were found in all the patients.Laboratory tests showed low blood calcium,high blood phosphorus and parathyroid hormone levels,including the presence of elevated blood alkaline phosphatase in 18 cases,with low potassium and / or hypomagnesemia in 12 cases,combined Thyroid dysfunction in 7 cases.26 cases of brain CT suggest intracranial calcification.The incidence of AHO malformations was 17.1%.Mostly misdiagnosed for hypoparathyroidism(20%,7/35),and for epilepsy(14%,5/35).18 patients(group A,51.4%)only had resistance to bone,10 patients((group B,28.6%)only had resistance to kidney,and 7 patients((group C,20%)had resistance to both bone and kidney.There were significant differences in the level of serum calcium and phosphorus among the three groups(P = 0.019,0.017),while there were no significant differences in PTH level(P=0.063),and the difference in age of onset,gender,AHO phenotypic,TSH increased proportion,cataract,and intracranial calcification among the three groups was not statistically significant(P > 0.05).Further comparison between the groups showed that serum calcium level in B group was higher(P = 0.021,0.005),serum phosphorus level was lower(P = 0.014,0.023),while there was no statistical significance in calcium and phosphorus levels between group A and group C(P = 0.403,0.495).ConclusionThere is a certain degree of overlap in the clinical manifestations of PHP patients,and the elevation of serum alkaline phosphatase level is common.The proportion of patients with renal reactive is less,and the degrees of hypocalcemia and hyperphosphatemia are lower.