Multiple endocrine neoplasia type 2 syndromes may be associated with renal malformations.
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 dysgenesis has 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 were a woman and her son.


METHODS
Case report.


METHODS
University department.


METHODS
A 32-year-old woman and her son with FMTC and unilateral renal agenesis.


RESULTS
The woman's abdominal ultrasound findings demonstrated unilateral renal absence of the left kidney. Her son, when only a few months old, had undergone 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 proto-oncogene 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 renal abnormalities in subjects with demonstrated RET mutations.
Loré
F
F
Endocrinology Unit, University of Siena, Italy. lore@unisi.it
Talidis
F
F
Di Cairano
G
G
Renieri
A
A
D000328:Adult; D018276:Carcinoma, Medullary / Q000235:genetics; D000013:Congenital Abnormalities / Q000235:genetics; D029721:Drosophila Proteins; D005260:Female; D018095:Germ-Line Mutation; D006627:Hirschsprung Disease / Q000235:genetics; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008297:Male; D008875:Middle Aged; D018813:Multiple Endocrine Neoplasia Type 2a / Q000209:etiology* / Q000235:genetics; D010375:Pedigree; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics; D014463:Ultrasonography; D014567:Urography
D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila