{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T18:10:01Z","timestamp":1756318201556,"version":"3.44.0"},"reference-count":9,"publisher":"BMJ","issue":"10","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,9,24]]},"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:p>A 31-year-old woman with retinitis pigmentosa who had been diagnosed with renal failure due to nephrosclerosis related to hypertensive disorders of pregnancy was referred to our hospital to prepare for renal replacement therapy. Ultrasonography and MRI of the kidneys revealed multiple corticomedullary cysts. A renal biopsy showed that the tubules were tortuous and atrophic with segmented tubular basement membrane thickening. These findings indicated that she had Senior-L\u00f8ken syndrome. A molecular genetic analysis was performed, and homozygous deletion of the gene encoding nephronophthisis-1 was found. Thus, the clinical diagnosis of Senior-L\u00f8ken syndrome was genetically confirmed. Because her renal function was gradually worsening, she was scheduled to undergo living donor kidney transplantation. Senior-L\u00f8ken syndrome, which is recognised as a very rare paediatric inherited disease characterised by nephronophthisis and eye problems, can cause adult-onset end-stage renal failure.<\/jats:p>","DOI":"10.1136\/bcr-2020-236137","type":"journal-article","created":{"date-parts":[[2020,10,27]],"date-time":"2020-10-27T17:05:38Z","timestamp":1603818338000},"page":"e236137","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Senior-L\u00f8ken syndrome misdiagnosed as nephrosclerosis related to hypertensive disorders of pregnancy"],"prefix":"10.1136","volume":"13","author":[{"given":"Yuri","family":"Hirai","sequence":"first","affiliation":[{"name":"Nephrology and Blood Purification, Nippon Life Hospital, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aya","family":"Mizumoto","sequence":"additional","affiliation":[{"name":"Nephrology and Blood Purification, Nippon Life Hospital, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kensuke","family":"Mitsumoto","sequence":"additional","affiliation":[{"name":"Nephrology and Blood Purification, Nippon Life Hospital, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Uzu","sequence":"additional","affiliation":[{"name":"Nephrology and Blood Purification, Nippon Life Hospital, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2020,10,27]]},"reference":[{"key":"2025082710572883000_13.10.e236137.1","unstructured":"National Organization for Rare Disorders (NORD) . 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