Pseudohypoparathyroidism Type II: Restoration of Normal Renal Responsiveness to Parathyroid Hormone by Calcium Administration

Rodriguez, Hector J.; Villarreal, H; Klahr, Saulo; Slatopolsky, Eduardo

doi:10.1210/jcem-39-4-693

Cited by 99 publications

(23 citation statements)

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“…To date, only a handful of PHP2 cases have been reported, and the molecular defect responsible for this variant is still unknown. It has also been hypothesised that PHP2 could either be an acquired defect secondary to vitamin D deficiency (14), as calcium and vitamin D supplementation resulted in normalisation of the phosphaturic response to PTH in some patients (14,15), or due to defects downstream the Gsa protein, as seen in patients with acrodysostosis type 1 (ACRDYS1) (16).…”

Section: Figurementioning

confidence: 99%

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

Thiele

Mantovani

Barlier

et al. 2016

European Journal of Endocrinology

123

124

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Objective: Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term pseudohypoparathyroidism (PHP), which encompasses rare, related and highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and the results of an in vitro assay to measure Gsa protein activity. However, this classification disregards other related diseases such as acrodysostosis (ACRDYS) or progressive osseous heteroplasia (POH), as well as recent findings of clinical and genetic/epigenetic background of the different subtypes. Therefore, the EuroPHP network decided to develop a new classification that encompasses all disorders with impairments in PTH and/or PTHrP cAMP-mediated pathway. Design and methods: Extensive review of the literature was performed. Several meetings were organised to discuss about a new, more effective and accurate way to describe disorders caused by abnormalities of the PTH/PTHrP signalling pathway. Results and conclusions: After determining the major and minor criteria to be considered for the diagnosis of these disorders, we proposed to group them under the term 'inactivating PTH/PTHrP signalling disorder' (iPPSD). This terminology: (i) defines the common mechanism responsible for all diseases; (ii) does not require a confirmed genetic defect; (iii) avoids ambiguous terms like 'pseudo' and (iv) eliminates the clinical or molecular overlap

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Section: Figurementioning

confidence: 99%

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

Thiele

Mantovani

Barlier

et al. 2016

European Journal of Endocrinology

123

124

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“…The diagnosis of pseudohypoparathyroidism in this case is based on chronic tetany with persistent hypocalcemia, the characteristic physical signs of round face, short stature, short metacarpals and metatarsals, subcutaneous calcification, absence of increase of phosphate and cyclic AMP in urine in response to exogenous PTH and slightly elevated PTH in serum in the absence of renal insufficiency or malabsorption syndrome, and this case apparently belongs to classical Type I (Drezner et al, 1973;Rodriguez et al, 1974). Although serum Ca was definitely low in the past, only a mild hypocalcemia was seen recently with disappearance of tetany andconvulsion, Endocrinol. Japon (Sinha et al, 1975 and.…”

Section: Discussionmentioning

confidence: 89%

Effect of 1.ALPHA.OH-vitamin D3 in a case of pseudohypoparathyroidism.

et al. 1977

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“…However, this does not necessarily indicate absolute skeletal refractoriness to the hormone, because the dose of PTH administered was lower than that usually used (Rodriguez et al, 1974;Drenzner et al, 1976). Moreover, the evidence demonstrating the increased alkaline phosphatase in the patient I-A and I-B which was decreased after calcium and vitamin D therapy (PHP Type I) and relatively mild hypocalcemia in the patient II (PHP Type II) suggests that skeletal resistance may be incomplete.…”

Section: Discussionmentioning

confidence: 93%

“…PHP Type I is a disorder which fails to show an increase in urinary cAMP and phosphate excretion by the administration of PTH, but PHP Type II is that which responds to the administration of PTH with a marked rise in urinary cAMP, but no increase in phosphate excretion. Rodriguez et al (1974) reported on a patient with PHP Type II who restored renal responsiveness to PTH by calcium administration.In the current study, we compared the. effect of calcium administration on renal response to PTH in these patients with PHP, with that in normal subjects and patients with idiopathic and surgical hypoparathyroidism.…”

mentioning

confidence: 99%

Effect of calcium administration on renal responsiveness to parathyroid hormone in pseudohypoparathyroidism type I and II - In comparion with normals, idiopathic and surgical hypoparathyroidism.

et al. 1979

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SynopsisA31-year-old man and a12-year-old girl were diagnosed as pseudohypoparathyroidism (PHP) Type I because of a failure to respond to the administration of parathyroid hormone (PTH) with increased urinary excretion of phosphate and cyclic adenosine-3', 5'-monophosphate (cAMP). A 22-year-old woman was diagnosed as PHP Type II because there was no increase in the urinary excretion of phosphate despite of a marked increase in urinary cAMP excretion.With the combined calcium-PTH infusion or PTH infusion after vitamin D therapy, renal response was improved in these patients.Also dibutyryl adenosine-3'-5'-cyclic monophosphate (dbcAMP) infusion evoked an increased urinary phosphate excretion in all of the patients.The metabolic defect of our patients with PHP Type I may be caused not by a lack or defective form of PTH-sensitive receptor adenylate cyclase complex but rather by an abnormal conformation in the plasma membrane-associated receptor adenylate cyclase enzyme complex in kidney. In the patient with PHP Type II, as cAMP generation is intact, the metabolic defect might be related to a defect of calcium mobilization in renal tubular cells in response to PTH. Pseudohypoparathyroidism(PHP) is a disorder characterized by renal and skeletal refractoriness to the effects of PTH (Albright et al., 1942). The findings that the effects of PTH on kidney and bone are mediated via an activation of adenylate cyclase (Dousa and Rychlik, 1968, Chase et al., 1969a) and that the urinary cAMP excretion can not be stimulated with PTH in this disorder (Chase et al., 1969b) suggest that the metabolic defect may exist in the PTH-sensitive receptor adenylate cyclase complex in kidney. Drezner et al. (1973) first demonstrated that PHP was not a single entity, but rather a heterogenous group of disorders, which could be divided into two types, e. g., PHP Type I and PHP Type II. PHP Type I is a disorder which fails to show an increase in urinary cAMP and phosphate excretion by the administration of PTH, but PHP Type II is that which responds to the administration of PTH with a marked rise in urinary cAMP, but no increase in phosphate excretion. Rodriguez et al. (1974) reported on a patient with PHP Type II who restored renal responsiveness to PTH by calcium administration.In the current study, we compared the. effect of calcium administration on renal response to PTH in these patients with PHP, with that in normal subjects and patients with idiopathic and surgical hypoparathyroidism.

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Pseudohypoparathyroidism Type II: Restoration of Normal Renal Responsiveness to Parathyroid Hormone by Calcium Administration

Cited by 99 publications

References 0 publications

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

Effect of 1.ALPHA.OH-vitamin D3 in a case of pseudohypoparathyroidism.

Effect of calcium administration on renal responsiveness to parathyroid hormone in pseudohypoparathyroidism type I and II - In comparion with normals, idiopathic and surgical hypoparathyroidism.

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