[Clinical study of pseudohypoparathyroidism Type I & Type II (author's transl)]. 1976

K Yamada, and Y Tamura, and M Yamamoto, and A Kumagai

Pseudohypoparathyroidism (PHP) is a disorder characterized by renal and/or skeletal refractoriness to the effect of parathyroid hormone (PTH). In 1973, it was first proposed by Drezner et al that PHP 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 the increase of urinary c-AMP and phosphaturia by the administration of PTH, but PHP Type II is that which responds to the administration of PTH with a marked rise of urinary c-AMP, but no increase of phosphate excretion, In 1974 Rodriguez et al demonstrated a patient with PHP Type II who restored normal renal responsiveness to PTH by calcium administration. Here we present two patients who fitted in the categories of PHP Type I & II, respectively, and restored normal renal responsiveness by the combined Ca-PTH administration or dibutyryl-cAMP infusion. Case I (PHP Type I) was a 31 yr old male with marked hypocalcemia and hyperphosphatemia, who showed neither increase of urinary c-AMP nor phosphate excretion in response to PTH infusion. Case II (PHP Type II), also diagnosed as Sjögren syndrome was a 22 yr old female with relatively mild hypocalcemia and hyperphosphatemia, who showed a marked rise of ordinary c-AMP, but no increase of phosphate excretion by PTH administration. Acute infusion of calcium, followed by PTH administration restored renal responsiveness to PTH in both types, though calcium infusion showed only little effects. The patient of PHP Type I received calcium gluconate and Vitamin D therapy and serum Ca improved, when PTH or DBc-AMP was given with the reappearance of PTH-like action. Thus in PHP Type I, the lack of c-AMP response to PTH, coupled with the ability of infused DBc-AMP to evoke a normal renal response suggests that the metabolic defect in this disorder may exist in hormone receptor-adenyl cyclase complex. Calcium infusion followed by PTH administration probably might evoke calcium influx and c-AMP production, resulting in the reappearance of hormone action. In PHP Type II, as c-AMP generation system is intact, the metabolic defect can be thought to exist in the rather poorly defined process beyond c-AMP generation. The combined Ca-PTH administration also restored normal renal response, probably partly due to the improved calcium environment of renal tubular cells. Though it is difficult to explain why endogenously generated c-AMP had no effect, but DBc-AMP had on reappearance of PTH-like action, it is speculated that DBc-AMP may have much more stronger effects for intracellular receptor site of c-AMP in PHP Type II. Conclusively these results clearly suggest that the nature of the metabolic defects in PHP is not a genetically determined inrreversible disorder, but rather a functional one which can be reversibly restored by special conditioning.

UI MeSH Term Description Entries
D008297 Male Males
D010281 Parathyroid Hormone A polypeptide hormone (84 amino acid residues) secreted by the PARATHYROID GLANDS which performs the essential role of maintaining intracellular CALCIUM levels in the body. Parathyroid hormone increases intracellular calcium by promoting the release of CALCIUM from BONE, increases the intestinal absorption of calcium, increases the renal tubular reabsorption of calcium, and increases the renal excretion of phosphates. Natpara,PTH (1-84),PTH(1-34),Parathormone,Parathyrin,Parathyroid Hormone (1-34),Parathyroid Hormone (1-84),Parathyroid Hormone Peptide (1-34),Hormone, Parathyroid
D010710 Phosphates Inorganic salts of phosphoric acid. Inorganic Phosphate,Phosphates, Inorganic,Inorganic Phosphates,Orthophosphate,Phosphate,Phosphate, Inorganic
D011547 Pseudohypoparathyroidism A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN. Albright Hereditary Osteodystrophy,PHPIa,Albright Hereditary Osteodystrophy with Multiple Hormone Resistance,PHD Ib,PHD1b,PHP Ia,Pseudohypoparathyroidism Type 1B,Pseudohypoparathyroidism, Type Ia,Pseudohypoparathyroidism, Type Ib,Hereditary Osteodystrophy, Albright,Osteodystrophy, Albright Hereditary,Pseudohypoparathyroidism Type 1Bs,Pseudohypoparathyroidisms,Pseudohypoparathyroidisms, Type Ia,Pseudohypoparathyroidisms, Type Ib,Type Ia Pseudohypoparathyroidism,Type Ia Pseudohypoparathyroidisms,Type Ib Pseudohypoparathyroidism,Type Ib Pseudohypoparathyroidisms
D002118 Calcium A basic element found in nearly all tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes. Coagulation Factor IV,Factor IV,Blood Coagulation Factor IV,Calcium-40,Calcium 40,Factor IV, Coagulation
D003994 Bucladesine A cyclic nucleotide derivative that mimics the action of endogenous CYCLIC AMP and is capable of permeating the cell membrane. It has vasodilator properties and is used as a cardiac stimulant. (From Merck Index, 11th ed) Dibutyryl Adenosine-3',5'-Monophosphate,Dibutyryl Cyclic AMP,(But)(2) cAMP,Bucladesine, Barium (1:1) Salt,Bucladesine, Disodium Salt,Bucladesine, Monosodium Salt,Bucladesine, Sodium Salt,DBcAMP,Dibutyryl Adenosine 3,5 Monophosphate,N',O'-Dibutyryl-cAMP,N(6),0(2')-Dibutyryl Cyclic AMP,AMP, Dibutyryl Cyclic,Adenosine-3',5'-Monophosphate, Dibutyryl,Cyclic AMP, Dibutyryl,Dibutyryl Adenosine 3',5' Monophosphate,Disodium Salt Bucladesine,Monosodium Salt Bucladesine,N',O' Dibutyryl cAMP,Sodium Salt Bucladesine
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000242 Cyclic AMP An adenine nucleotide containing one phosphate group which is esterified to both the 3'- and 5'-positions of the sugar moiety. It is a second messenger and a key intracellular regulator, functioning as a mediator of activity for a number of hormones, including epinephrine, glucagon, and ACTH. Adenosine Cyclic 3',5'-Monophosphate,Adenosine Cyclic 3,5 Monophosphate,Adenosine Cyclic Monophosphate,Adenosine Cyclic-3',5'-Monophosphate,Cyclic AMP, (R)-Isomer,Cyclic AMP, Disodium Salt,Cyclic AMP, Monoammonium Salt,Cyclic AMP, Monopotassium Salt,Cyclic AMP, Monosodium Salt,Cyclic AMP, Sodium Salt,3',5'-Monophosphate, Adenosine Cyclic,AMP, Cyclic,Adenosine Cyclic 3',5' Monophosphate,Cyclic 3',5'-Monophosphate, Adenosine,Cyclic Monophosphate, Adenosine,Cyclic-3',5'-Monophosphate, Adenosine,Monophosphate, Adenosine Cyclic
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

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