Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.
Am J Med Genet A
; 185(12): 3762-3769, 2021 12.
Article
en En
| MEDLINE
| ID: mdl-34355836
ABSTRACT
Heritable connective tissue disorders are a group of diseases, each rare, characterized by various combinations of skin, joint, musculoskeletal, organ, and vascular involvement. Although kidney abnormalities have been reported in some connective tissue disorders, they are rarely a presenting feature. Here we present three patients with prominent kidney phenotypes who were found by whole exome sequencing to have variants in established connective tissue genes associated with Loeys-Dietz syndrome and congenital contractural arachnodactyly. These cases highlight the importance of considering connective tissue disease in children presenting with structural kidney disease and also serves to expand the phenotype of Loeys-Dietz syndrome and possibly congenital contractural arachnodactyly to include cystic kidney disease and cystic kidney dysplasia, respectively.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Contractura
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Proteína Smad2
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Aracnodactilia
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Síndrome de Loeys-Dietz
/
Fibrilina-2
/
Receptor Tipo I de Factor de Crecimiento Transformador beta
Límite:
Adolescent
/
Child
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Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2021
Tipo del documento:
Article
País de afiliación:
Estados Unidos