{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T22:56:33Z","timestamp":1793228193727,"version":"4.5.0"},"reference-count":31,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,11,28]],"date-time":"2017-11-28T00:00:00Z","timestamp":1511827200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>Wolf\u2010Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by a partial deletion of chromosome 4 (4p16.3p16.2). We describe a case of a male 9 years old children with WHS proteinuria and hypertension. Laboratory data showed creatinine 1.05\u2009mg\/dl, GFR 65.9\u2009ml\/min\/1.73\u2009m<jats:sup>2<\/jats:sup>, cholesterol 280\u2009mg\/dl, triglyceride 125\u2009mg\/dl with electrolytes in the normal range. Urine collection showed protein 2.72\u2009g\/L with a urine protein\/creatinine ratio (U<jats:sub>P<\/jats:sub>\/U<jats:sub>Cr<\/jats:sub> ratio) of 4.2 and diuresis of 1,100\u2009ml. Renal ultrasound showed reduced kidney dimensions with diffusely hyperechogenic cortex and poorly visualized pyramids. Renal biopsy showed oligonephronia with focal segmental glomerulosclerosis associated with initial tubulointerstitial sclerotic atrophy. The child began therapy with Angiotensin\u2010converting enzyme inhibitors (ACE\u2010inhibitors) to reduce proteinuria and progression of chronic kidney disease. In the literature the anomalies of number of glomeruli oligonephronia and oligomeganephronia (OMN) are described in two forms, one without any associated anomalies, sporadic, and solitary and the other with one or more anomalies. Our review of the literature shows that the pathogenesis of this anomaly is unknown but the role of chromosome 4 is very relevant. Many cases of OMN are associated with anomalies on this chromosome, in the literature cases series we observed this association in 14\/48 cases (29.2%) and in 7 of these 14 cases with WHS. Our case and the review of literature demonstrate how periodic urinalysis and renal ultrasound monitoring is recommended in patients affected by WHS and the renal biopsy must be performed when there is the onset of proteinuria.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38554","type":"journal-article","created":{"date-parts":[[2017,11,29]],"date-time":"2017-11-29T16:54:42Z","timestamp":1511974482000},"page":"409-414","source":"Crossref","is-referenced-by-count":8,"title":["Oligonephronia and Wolf\u2010Hirschhorn syndrome: A further observation"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8778-9328","authenticated-orcid":false,"given":"Antonio","family":"Gatto","sequence":"first","affiliation":[{"name":"Institute of Pediatrics Fondazione Policlinico Universitario A. Gemelli Catholic University Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Ferrara","sequence":"additional","affiliation":[{"name":"Institute of Pediatrics Fondazione Policlinico Universitario A. Gemelli Catholic University Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Leoni","sequence":"additional","affiliation":[{"name":"Center for Rare Disease and Congenital Defects Fondazione Policlinico Universitario A. Gemelli Catholic University Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Onesimo","sequence":"additional","affiliation":[{"name":"Center for Rare Disease and Congenital Defects Fondazione Policlinico Universitario A. 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