NPHP Gene Related Nephronophthisis in Bahrain- Case Series and Literature Review

Khadija M Alshehabi, Abdulraqeeb Alomari, Amna Alawadhi and Noof Alansari
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Abdulraqeeb Alomari: Nephrology Department, Salmaniya Medical Complex, Government Hospitals, Bahrain
Amna Alawadhi: Department of Genetics, Salmaniya Medical Complex, Government Hospitals, Bahrain
Noof Alansari: Department of Medicine, Salmaniya Medical Complex, Government Hospitals, Bahrain

Biomedical Journal of Scientific & Technical Research, 2025, vol. 60, issue 2, 52362-52367

Abstract: Nephronophthisis (NPHP) is a rare, autosomal recessive disorder that often progresses to end-stage renal dis- ease (ESRD) in early adulthood. It is caused by mutations in genes encoding proteins involved in primary cilia function. In addition to renal involvement, NPHP can present with various extrarenal manifestations, including ocular, skeletal, hepatic, neurological, and cardiac abnormalities. Recent studies have also highlighted the poten- tial association of NPHP with male infertility.

Keywords: Journals on Medical Drug and Therapeutics; Journals on Emergency Medicine; Physical Medicine and Rehabilitation; Journals on Infectious Diseases Addiction Science and Clinical Pathology; Open Access Clinical and Medical Journal; Journals on Biomedical Science; List of Open Access Medical Journal; Journals on Biomedical Engineering; Open Access Medical Journal; Biomedical Science Articles; Journal of Scientific and Technical Research (search for similar items in EconPapers)
Date: 2025
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Persistent link: https://EconPapers.repec.org/RePEc:abf:journl:v:60:y:2025:i:2:p:52362-52367

DOI: 10.26717/BJSTR.2025.60.009421

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