Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.
BMC Med Genet
; 18(1): 79, 2017 07 26.
Article
en En
| MEDLINE
| ID: mdl-28747166
ABSTRACT
BACKGROUND:
Fumarate hydratase (FH) deficiency is a rare autosomal recessive disorder which results in a major defect in cellular metabolism. It presents in infancy with progressive encephalopathy, hypotonia, seizures and failure to thrive and is often fatal in childhood. It is caused by mutations in the FH gene (1q42.1) that result in deficiency of the citric acid cycle enzyme fumarate hydratase, resulting in accumulation of fumaric acid. Heterozygous germline mutations in the FH gene predispose to an aggressive autosomal dominant inherited early-onset kidney cancer syndrome hereditary leiomyomatosis and renal cell cancer (HLRCC). CASE PRESENTATION Cascade FH mutation screening enabled the early diagnosis of a renal tumour in an asymptomatic parent of a child with fumarate hydratase deficiency, resulting in timely and possibly life-saving treatment.CONCLUSION:
While the theoretical risk of kidney cancer in parents of children with recessive fumarate hydratase deficiency is well recognized, to our knowledge this is the first report of a kidney tumour being detected in a parent by screening performed for this indication. This underscores the importance of offering lifelong kidney surveillance to such parents and other heterozygous relatives of children born with fumarate hydratase deficiency.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Trastornos Psicomotores
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Carcinoma de Células Renales
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Fumarato Hidratasa
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Neoplasias Renales
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Errores Innatos del Metabolismo
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Hipotonía Muscular
Tipo de estudio:
Diagnostic_studies
/
Screening_studies
Límite:
Female
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Humans
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Infant
Idioma:
En
Revista:
BMC Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2017
Tipo del documento:
Article
País de afiliación:
Reino Unido