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Titolo:
Multiple endocrine neoplasia type 2 syndromes may be associated with renalmalformations
Autore:
Lore, F; Talidis, F; Di Cairano, G; Renieri, A;
Indirizzi:
Univ Siena, Policlin Le Scotte, Endocrinol Unit, I-53100 Siena, Italy UnivSiena Siena Italy I-53100 te, Endocrinol Unit, I-53100 Siena, Italy Univ Siena, Med Genet Unit, I-53100 Siena, Italy Univ Siena Siena Italy I-53100 ena, Med Genet Unit, I-53100 Siena, Italy
Titolo Testata:
JOURNAL OF INTERNAL MEDICINE
fascicolo: 1, volume: 250, anno: 2001,
pagine: 37 - 42
SICI:
0954-6820(200107)250:1<37:MENT2S>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
RET-MUTATION-CONSORTIUM; TRANSFORMING GENE; TYROSINE KINASE; MICE LACKING; PROTOONCOGENE; RECEPTOR; EXPRESSION; AGENESIS; KIDNEY; ACTIVATION;
Keywords:
FMTC; germline mutations; Hirschsprung disease; kidney; MEN 2; RET proto-oncogene; thyroid neoplasms; urogenital abnormalities;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
27
Recensione:
Indirizzi per estratti:
Indirizzo: Lore, F Univ Siena, Policlin Le Scotte, Endocrinol Unit, Via Laterina 8, I-53100 Siena, Italy Univ Siena Via Laterina 8 Siena Italy I-53100 -53100 Siena, Italy
Citazione:
F. Lore et al., "Multiple endocrine neoplasia type 2 syndromes may be associated with renalmalformations", J INTERN M, 250(1), 2001, pp. 37-42

Abstract

Objective. The RET proto-oncogene is known to be the susceptibility gene for various disease phenotypes, including multiple endocrine neoplasia type 2 (MEN 2). Recent studies have also suggested an involvement of RET in the development of the mammalian kidney. Although kidney agenesis or dysgenesishas been observed in mice lacking functional ret, no clinically relevant kidney abnormalities have been reported in individuals with known RET mutations and familial medullary thyroid carcinoma (FMTC). We have studied a family with five members affected with isolated FMTC. DNA analysis was performed and the involved RET mutation was identified. Amongst these patients werea woman and her son. Design. Case report. Setting. University department. Patients. A 32-year-old woman and her son with FMTC and unilateral renal agenesis. Results. The woman's abdominal ultrasound findings demonstrated unilateralrenal absence of the left kidney. Her son, when only a few months old, hadundergone surgical treatment for Hirschsprung's disease. Abdominal ultrasonography was performed recently, and left-side renal absence was diagnosed. Intravenous pyelography confirmed the agenesis of his left kidney, whilst the contralateral kidney displayed compensatory hypertrophy. Conclusions, The involvement of the RET protooncogene in the early growth and differentiation of the human kidney is now generally accepted. We believe that at least a proportion of patients with MEN 2 may have undiagnosed renal malformations. We suggest therefore that noninvasive imaging techniques, such as ultrasonography, should be used to explore the presence of renalabnormalities in subjects with demonstrated RET mutations.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/09/20 alle ore 09:10:17