Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature.
Abnormalities, Multiple
/ diagnosis
Abortion, Habitual
/ genetics
Anus, Imperforate
/ complications
Delayed Diagnosis
Ear, External
/ abnormalities
Female
Hammer Toe Syndrome
/ genetics
Hearing Loss, Bilateral
/ genetics
Hearing Loss, Sensorineural
/ complications
Humans
Kidney Failure, Chronic
/ etiology
Kidney Transplantation
Middle Aged
Pedigree
Peripheral Nervous System Diseases
/ genetics
Phenotype
Polydactyly
/ genetics
Renal Dialysis
Retinal Dystrophies
/ genetics
Thumb
/ abnormalities
Transcription Factors
/ genetics
SALL1
Townes-Brocks syndrome
adult
deafness
renal failure
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
03 2021
03 2021
Historique:
received:
10
09
2020
revised:
09
12
2020
accepted:
12
12
2020
pubmed:
14
1
2021
medline:
20
7
2021
entrez:
13
1
2021
Statut:
ppublish
Résumé
Townes-Brocks syndrome (TBS) is a rare autosomal dominant syndrome, resulting from heterozygous variant in SALL1 gene and initially characterized by the triad of anorectal, thumb, and ear malformations. Essentially described in children, adult case reports are uncommon. Renal involvement has already been reported in adults and children but poorly described. Structural abnormalities such as hypodysplasia, unilateral renal agenesis or multicystic kidneys have been described, as well as functional impairment (with or without structural abnormalities) that may progress to end-stage renal disease (ESRD). We report two adult cases (mother and daughter) which exhibited kidney hypoplasia (focal and segmental glomerulosclerosis for the mother) and ESRD. The mother had unilateral polydactyly. TBS was suggested after physical examination. TBS diagnosis was confirmed by identification of a SALL1 variant. We conducted a literature review to evaluate the renal anomalies in TBS cases diagnosed in adulthood. Among 44 adult cases of TBS with genetic confirmation (including our two cases), 10 had kidney disease. The circumstances of renal failure diagnosis were incidental findings (2/5), gout (2/5), or repeated episodes of pyelonephritis (1/5). The median age of kidney disease diagnosis was 30 years old and of renal transplant 49 years old. The most frequent renal malformation was bilateral kidney hypoplasia. TBS is probably underestimated in adulthood and this report highlights that less obvious elements of morphology such as dysplasic ears can facilitate the diagnosis of TBS. As long-term prognosis of renal involvement in TBS patients remains largely unknown, a regular evaluation is required throughout life for patients.
Identifiants
pubmed: 33438842
doi: 10.1002/ajmg.a.62050
doi:
Substances chimiques
SALL1 protein, human
0
Transcription Factors
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
937-944Informations de copyright
© 2021 Wiley Periodicals LLC.
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