{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T07:08:41Z","timestamp":1769152121637,"version":"3.49.0"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,7,10]],"date-time":"2021-07-10T00:00:00Z","timestamp":1625875200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,7,10]],"date-time":"2021-07-10T00:00:00Z","timestamp":1625875200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Nephrol"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Nephronophthisis (NPHP) is a chronic tubular interstitial disorder that exhibits an autosomal recessive genetic form and causes progressive renal failure in children. Patients with NPHP rarely show urinary abnormalities, edema, or hypertension. Thus, NPHP is often detected only when renal failure becomes advanced. NPHP can be divided into three types based on the age of end-stage renal failure, i.e., infant type (approximately 5\u2009years old), juvenile type (approximately 13\u201314\u2009years old), and adolescent type (approximately 19\u2009years old). Here, we report a case of NPHP diagnosed by genetic analysis at 26\u2009years of age with atypical histological abnormalities.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 26-year-old woman showed no growth disorders or urinary abnormalities in annual school physical examinations. However, at a check-up at 26\u2009years old, she exhibited renal dysfunction (eGFR 26\u2009mL\/min\/1.73\u2009m<jats:sup>2<\/jats:sup>). Urine tests indicated low specific gravity of urine, but not proteinuria or microscopic hematuria. Urinary \u03b22-microglobulin was high (805\u2009\u03bcg\/L), and renal biopsy was performed for definitive diagnosis. Histological findings showed no significant findings in glomeruli. However, moderate fibrosis was observed in the interstitial area, and moderate atrophy was observed in the tubules. There were no significant findings in immunofluorescence analysis, and no electron dense deposits were detected by electron microscopy. Although cyst-like expansion of the tubules was unclear, tubular atrophy was dominantly found in the distal tubule by cytokeratin 7 staining. Genetic analysis of the <jats:italic>NPHP1<\/jats:italic> gene showed complete deletion of this gene, leading to a definitive diagnosis of NPHP.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>NPHP is not merely a pediatric disease and is relatively high incidence in patients with adult onset end-stage of renal disease. In this case, typical histological abnormalities, such as cyst-like expansion of the tubular lesion, were not observed, and diagnosis was achieved by genetic analysis of the <jats:italic>NPHP1<\/jats:italic> gene, which is responsible for the onset of NPHP. In patients with renal failure with tubular interstitial disease dominantly in the distal tubules, it is necessary to discriminate NPHP, even in adult cases.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12882-021-02466-z","type":"journal-article","created":{"date-parts":[[2021,7,10]],"date-time":"2021-07-10T10:02:44Z","timestamp":1625911364000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Atypical histological abnormalities in an adult patient with nephronophthisis harboring NPHP1 deletion: a case report"],"prefix":"10.1186","volume":"22","author":[{"given":"Maiko","family":"Akira","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1901-2111","authenticated-orcid":false,"given":"Hitoshi","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arisa","family":"Ikeda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masako","family":"Iwasaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daisuke","family":"Honda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hisatsugu","family":"Takahara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hisaki","family":"Rinno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeki","family":"Tomita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusuke","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,7,10]]},"reference":[{"key":"2466_CR1","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1097\/MOP.0000000000000194","volume":"7","author":"MT Wolf","year":"2015","unstructured":"Wolf MT. Nephronophthisis and related syndromes. Curr Opin Pediatr. 2015;7:201\u201311.","journal-title":"Curr Opin Pediatr"},{"key":"2466_CR2","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1038\/ki.1980.115","volume":"18","author":"DE Potter","year":"1980","unstructured":"Potter DE, et al. Jr treatment of end-stage renal disease in children: a 15-year experience. Kidney Int. 1980;18:103\u20139.","journal-title":"Kidney Int"},{"key":"2466_CR3","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1136\/jmg.35.4.279","volume":"35","author":"S Ala-Mello","year":"1998","unstructured":"Ala-Mello S, et al. Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism. 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