Case of CATCH 22 syndrome complicated with pseudohypoparathyroidism and unilateral renal aplasia

Pediatrics International

Volumn 44, Issue 1, 2002, Pages 109-111

  Miyane, Shino ^a   Itoh, Susumu ^a   Imai, Tadashi ^a   Ishii, Ayako ^a   Iwase, Takashi ^a   Ishii, Yoshiro ^a   Onishi, Shoju ^a  

^a KAGAWA UNIVERSITY   (Japan)

Author keywords

CATCH 22 syndrome; Parathyroid hormone; Pseudohypoparathyroidism; Renal aplasia

Indexed keywords

PARATHYROID HORMONE;

ADOLESCENT; ARTICLE; BRONCHUS; CASE REPORT; CATCH 22 SYNDROME; CHROMOSOME 22Q; CHROMOSOME DELETION; CLEFT PALATE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL HEART MALFORMATION; DIGEORGE SYNDROME; EMBRYOLOGY; FACE MALFORMATION; HORMONE RELEASE; HUMAN; HYPERPHOSPHATEMIA; HYPOCALCEMIA; HYPOPARATHYROIDISM; HYPOPLASIA; KIDNEY AGENESIS; MALE; NEURAL CREST CELL; PARATHYROID GLAND; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; SYMPTOMATOLOGY; SYNDROME; THYMIC HYPOPLASIA; VELOCARDIOFACIAL SYNDROME;

ADOLESCENT; CHROMOSOMES, HUMAN, PAIR 22; GENE DELETION; HUMANS; KIDNEY; KIDNEY FUNCTION TESTS; MALE; PSEUDOHYPOPARATHYROIDISM; SYNDROME; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0036166787     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1442-200X.2002.01485.x     Document Type: Article

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5. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy
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7. Pseudohypoparathyroidism type II: Restoration of normal renal responsiveness to parathyroid hormone by calcium administration
8. Possible existence of antirenal tubular plasma membrane autoantibody which blocked parathyroid hormone-induced phosphaturia in a patient with pseudohypoparathyroidism type II and Sjögren's syndrome
9. Dissociation between the effects of endogenous parathyroid hormone on adenosine 3,5-monophosphate generation and phosphate reabsorption in hypocalcemia due to vitamin D depletion: An acquired disorder resembling pseudohypoparathyroidism type II