小児研究の進歩
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概要

A Rare Case of Nephronophthisis Type IV (Senior-Loken Syndrome) Representing with Hypopituitarism

Salehzadeh Farhad, Nahideh Ekhlasi, Emad Rahiminezhad Kisomi, Alireza Mohebbi, Mehdi Mohammadzadeh Shahla

Nephronophthisis (NPHP) is an autosomal recessive cystic disease of the kidney that is identified based on its different forms of gene mutations. More than 10 percent of NPHP cases can manifest with extra-renal manifestations, including Senior-Loken Syndrome (SLSN), mental retardation, liver fibrosis, skeletal changes, etc., and their renal involvement will eventually lead to End-Stage Renal Failure (ESRD), requiring a kidney transplant. 150 cases of SLSN have been reported worldwide. Due to the rarity of this syndrome and the lack of reports of its identification in this region, we decided to report a case of SLSN in a 13-year-old boy who was referred to our clinic to find the cause of high creatinine. In the patient's history and subsequent investigations, there were symptoms of hypopituitarism, mild retinal dystrophy, severe osteopenia, mild liver fibrosis and NPHP.