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22.11.2022 | Case Report

A novel combination of OHVIRA syndrome and likely causal variant in UMOD gene

verfasst von: Atraya Samanta, Syed Monajatur Rahman, Anil Vasudevan, Sushmita Banerjee

Erschienen in: CEN Case Reports | Ausgabe 2/2023

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Abstract

OHVIRA syndrome (or Herlyn–Werner–Wunderlich syndrome) is a rare condition, consisting classically of obstructed hemi-vagina with ipsilateral renal agenesis. It may be associated with complex uterine malformations and more rarely with lower urinary tract anomalies. The contralateral kidney usually has normal function. A genetic etiology of this syndrome has not yet been confirmed. We report a patient who was diagnosed to have unilateral renal agenesis in early childhood, and then presented after menarche with features of OHVIRA syndrome. The contralateral kidney was relatively small and echogenic, and serum creatinine and uric acid were raised. A likely causal variant of the UMOD gene was detected on whole exome sequencing. Genetic studies in more patients with OHVIRA syndrome may elucidate further, whether the association with UMOD gene is causal in nature.

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Titel: A novel combination of OHVIRA syndrome and likely causal variant in UMOD gene
verfasst von: Atraya Samanta
Syed Monajatur Rahman
Anil Vasudevan
Sushmita Banerjee
Publikationsdatum: 22.11.2022
Verlag: Springer Nature Singapore
Erschienen in: CEN Case Reports / Ausgabe 2/2023
Elektronische ISSN: 2192-4449
DOI: https://doi.org/10.1007/s13730-022-00754-7

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