The Italian Register of primary hypoparathyroidism: Italian Register of Primary Hypoparathyroidism

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Italian Register of Primary Hypoparathyroidism

In 1996 an Italian Register of Primary Hypoparathyroidism was created in Florence and named RIIP. It is a passive register and its Central Secretariat has been es­tablished in Florence. RIIP collects clinical records both on spo­radic and familial cases of primary hypoparathyroidism. Informa­tion was obtained from Italian endocrine, neurological and pedi­atric Centers through the compilation of a simple form, that in­cludes the identification code of the patient, the date of birth, the diagnosis of the type of hypoparathyroidism, the presence of other associated diseases (typical or not), the data on organ and non-organ antibodies, the results of PTH infusion and genetic tests. Each subject is requested to give informed consent and at any time the patient can ask to obtain his/her clinical data delet­ed from the official file. The form (available on request) has been arranged to be sent by fax and e-mail (Table II).

Goals of the RIIP

The primary goal of the RIIP is the collection of clinical data in order to elaborate epidemiological results on incidence, preva­lence and geographical clustering of primary hypoparathy- roidism in Italy. The Register supports also the genetic test for Centers not equipped for molecular diagnostic procedures. The collection of these data will make possible a nation-wide survey of the problem and the definition of the prevalence of typical and atypical lesions both in affected patients and their rela­tives. Through this approach the incidence and prevalence of the various disorders in Italy will be compared to what de­scribed in other countries. Finally, the possibility of collecting kindreds affected by rare disorders will make available large patient cohorts necessary in clinical trials designed to recog­nize therapeutical interventions suitable to a given disorder. Several genes are involved in the pathogenesis of hypocalcemic disorders due to parathyroid tissue/PTH response dysfunction. The mutational analysis of GNAS1 gene, the parathyroid hor­mone (PTH) gene, the PTH/PTHrP receptor (PTH/PTHrPr) gene, the CaSR gene, the human orthologue gene of the Drosophila glial cells missing gene dGCM (GCMB) gene, the GATA3 transcription factor (GATA3) gene and the AIRE gene in patients recorded at the RIIP should make possible to identify mutations that have been described in the literature and eventu­al new mutations responsible for the various (typical or not-typi­cal) forms of primary hypoparathyroidism. In addition, microar- rays will make possible to study the expression profile and hap- lotypes of genes involved in the pathogenesis of hypocalcemic disorders through the construction of a “gene cassette” useful to clarify the metabolic pathways underlying the hypocalcemic dys­functions. Future advances will be important for the discovery both of novel genetic markers and of the pathogenesis of these disorders, making possible to identify early latent states of hypocalcemia and to create guidelines for diagnostic and clinical management of hypoparathyroid patients in Italy. Best cheap viagra online on rx-approved

Table II – Form for collecting information on patients affected by primary hypoparathyroidism.

Patient’s	Surname	Date of	Type of	Associated	Organ-	Non Organ-	Test for	Genetic
code #	and name	birth	hypopara- thyroidism*	diseases**	specific antibodies	specific antibodies	pseudohypo- parathyroidism diagnosis***	diagnosis