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.
Keywords:
Loeys-Dietz syndrome; congenital contractual arachnodactyly; kidney cysts; kidney dysplasia.
© 2021 Wiley Periodicals LLC.
Publication types
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Research Support, N.I.H., Extramural
MeSH terms
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Adolescent
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Arachnodactyly / complications
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Arachnodactyly / diagnostic imaging
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Arachnodactyly / genetics*
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Arachnodactyly / pathology
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Child
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Connective Tissue / pathology
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Connective Tissue Diseases / complications
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Connective Tissue Diseases / diagnostic imaging
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Connective Tissue Diseases / genetics
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Connective Tissue Diseases / pathology
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Contracture / complications
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Contracture / diagnostic imaging
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Contracture / genetics*
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Contracture / pathology
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Exome Sequencing
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Fibrillin-2 / genetics*
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Genetic Predisposition to Disease
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Humans
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Kidney / diagnostic imaging
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Kidney / pathology
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Kidney Diseases, Cystic / complications
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Kidney Diseases, Cystic / genetics
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Kidney Diseases, Cystic / pathology
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Loeys-Dietz Syndrome / complications
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Loeys-Dietz Syndrome / diagnostic imaging
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Loeys-Dietz Syndrome / genetics*
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Loeys-Dietz Syndrome / pathology
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Male
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Mutation / genetics
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Phenotype
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Receptor, Transforming Growth Factor-beta Type I / genetics*
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Skin Abnormalities / complications
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Skin Abnormalities / genetics
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Skin Abnormalities / pathology
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Smad2 Protein / genetics*
Substances
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FBN2 protein, human
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Fibrillin-2
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SMAD2 protein, human
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Smad2 Protein
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Receptor, Transforming Growth Factor-beta Type I
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TGFBR1 protein, human
Supplementary concepts
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Congenital contractural arachnodactyly