Pseudohypoparathyroidism ia with evans syndrome

Journal of Pediatric Hematology/Oncology

Volumn 30, Issue 8, 2008, Pages 628-630

  Pavone, Piero ^a   Praticò, Andrea Domenico ^a   Danilo, Castellano Chiodo ^a   Ruggieri, Martino ^b  

^a UNIVERSITY OF CATANIA   (Italy)

^b INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

Author keywords

Anemia; Evans syndrome; Parathormone; Pseudohypoparathyroidism Ia; Thrombocytopenia

Indexed keywords

ALFACALCIDOL; CALCIUM; CEFTRIAXONE; CLARITHROMYCIN; CORTISONE; IMMUNOGLOBULIN; LEVOTHYROXINE;

ALBRIGHT SYNDROME; ARTICLE; AUTOIMMUNE HEMOLYTIC ANEMIA; BRACHYDACTYLY; CALCIUM BLOOD LEVEL; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; DISEASE ASSOCIATION; DRUG SUBSTITUTION; DRUG WITHDRAWAL; HUMAN; HYPOCALCEMIA; IDIOPATHIC THROMBOCYTOPENIC PURPURA; MALE; MENTAL DEFICIENCY; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; PATHOPHYSIOLOGY; SYNDROME;

ANEMIA, HEMOLYTIC, AUTOIMMUNE; CHILD, PRESCHOOL; FIBROUS DYSPLASIA, POLYOSTOTIC; HUMANS; MALE; PSEUDOHYPOPARATHYROIDISM; PURPURA, THROMBOCYTOPENIC, IDIOPATHIC; SYNDROME;

EID: 53749102367     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e318175890f     Document Type: Article

References (13)

1. Albright F, Burnett CH, Smith PH, et al. Pseudohypoparathyroidism-an example of 'Seabright Bantam syndrome.' Endocrinology.1942;30:922-932.
2. De Sanctis L. Pseudohypoparathyroidism History of the disease. J Pediatr Endocrinol Metabol. 2006;19:627-633.
3. Ahmed SF, Dixon PH, Bonthron DT, et al. GNAS1 mutational analysis in pseudohypoparathyroidism. Clin Endocrinol. 1998;49:525-531.
4. Ahrens W, Hiort O, Staedt P, et al. Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. J Clin Endocrinol Metabol.2001;86: 4630-4634.
5. Bastepe M, Juppner H. GNAS locus and pseudohypoparathyroidism. Horm Res. 2006;63:65-74.
6. Weinstein LS. The stimulatory G protein a-subunit gene: mutations and imprinting lead to complex phenotypes. J Clin Endocrinol Metabol. 2001;86:4622-4626.
7. Linglart A, Carel JC, Garabedian M. GNAS lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. J Clin Endocrinol Metabol. 2002;87:189-197.
8. Gelfand IM, Eugster EA, Di Meglio LA. Presentation and clinical progression of PHP with multi-hormone resistance and Albright hereditary osteodystrophy: a case series. J Pediatr. 2006;149: 877-880.
9. Hayashi K, Yandell DW. How sensitive is PCR-SSCP? Hum Mutat.1993;2:338-346.
10. Norton A, Roberts I. ''Management of Evans syndrome.'' Br J Haematol. 2006;132:125-137.
11. Somasundaram LS, Sankaranarayanan R. Pseudohypoparathyroidism with systemic lupus erythematous. J Assoc Physicians India. 2003;51: 64-65.
12. Hara K, Suzuki T, Imai F, et al. A case of pseudohypoparathyroidism type 1 with systemic lupus erythematosus. Ryumachi. 1989;29: 200-206.
13. Gerhardt A, Hackenberg K. Pseudohypoparathyroidism and Graves' disease: a rare combination of two endocrinological diseases. Exp Clin Endocrinol Diabet. 2002;110:245-247.