{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:57:28Z","timestamp":1777525048847,"version":"3.51.4"},"reference-count":22,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[1983,2,1]],"date-time":"1983-02-01T00:00:00Z","timestamp":412905600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clin Pediatr (Phila)"],"published-print":{"date-parts":[[1983,2]]},"abstract":"<jats:p>Juvenile nephronophthisis is a slowly progressive renal disease with onset in infancy, char acterized by impaired renal concentrating ability. The combination of juvenile nephronophthisis and tapeto-retinal degeneration, renal-retinal dystrophy, may cause blindness in infancy, and renal failure in the first decade of life. This syndrome has not been previously described as a cause of renal failure in young infants. We report an infant who presented at three months of age with blindness and renal insufficiency. In addition, this infant had a disproportionate degree of hypocalcemia and hyperphosphatemia compatible with relative parathyroid gland insuffi ciency. We propose that this was due to an inability of this infant's parathyroid glands to undergo compensatory hypertrophy, rather than a specific defect in parathyroid function as sociated with renal-retinal dystrophy.<\/jats:p>","DOI":"10.1177\/000992288302200205","type":"journal-article","created":{"date-parts":[[2007,11,26]],"date-time":"2007-11-26T17:50:16Z","timestamp":1196099416000},"page":"114-118","source":"Crossref","is-referenced-by-count":7,"title":["Juvenile Nephronophthisis with Blindness in a Three-month-old Infant"],"prefix":"10.1177","volume":"22","author":[{"given":"Philip A.","family":"Gruppuso","sequence":"first","affiliation":[{"name":"Departments of Pediatrics and Pathology, Rhode Island Hospital and Section of Reproductive and Developmental Medicine, Division of Biology and Medicine, Brown University, Providence, Rhode Island"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia A.","family":"O'Shea","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Pathology, Rhode Island Hospital and Section of Reproductive and Developmental Medicine, Division of Biology and Medicine, Brown University, Providence, Rhode Island"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jay M.","family":"Orson","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Pathology, Rhode Island Hospital and Section of Reproductive and Developmental Medicine, Division of Biology and Medicine, Brown University, Providence, Rhode Island"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew S.","family":"Brem","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Pathology, Rhode Island Hospital and Section of Reproductive and Developmental Medicine, Division of Biology and Medicine, Brown University, Providence, Rhode Island"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[1983,2,1]]},"reference":[{"key":"atypb1","first-page":"55","volume":"9","author":"Van Collenburg Jjm","year":"1978","journal-title":"Clin Nephrol"},{"key":"atypb2","first-page":"14","volume":"5","author":"Fillastre JP","year":"1976","journal-title":"Clin Nephrol"},{"key":"atypb3","first-page":"442","volume":"125","author":"Senior B.","year":"1973","journal-title":"Am J Dis Child"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(61)90147-7"},{"key":"atypb5","first-page":"281","volume":"186","author":"Delaney V.","year":"1978","journal-title":"QJ Med"},{"key":"atypb6","first-page":"471","volume":"27","author":"Bois E.","year":"1970","journal-title":"Arch Fr Pediatr"},{"key":"atypb7","volume-title":"Clinical applications of carboxyl terminal parathyroid hormone radioimmunoassay","author":"Potts JT","year":"1979"},{"key":"atypb8","unstructured":"Krutzik SR Parathyroid hormone. In: Nichols AL, Nelsan JC, eds. Radioimmunoassay manual, 4th ed. Los Angeles: Hill-side Graphics, 1977: 105-9."},{"key":"atypb9","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1016\/S0021-9258(19)45621-4","volume":"247","author":"Steiner AL","year":"1972","journal-title":"J Biol Chem"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(80)90299-5"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1136\/adc.51.10.801"},{"key":"atypb12","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-195812000-00003"},{"key":"atypb13","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1159\/000180872","volume":"19","author":"Brouhard BH","year":"1977","journal-title":"Nephron"},{"key":"atypb14","doi-asserted-by":"publisher","DOI":"10.1172\/JCI106517"},{"key":"atypb15","doi-asserted-by":"publisher","DOI":"10.1172\/JCI105877"},{"key":"atypb16","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197205182862009"},{"key":"atypb17","doi-asserted-by":"publisher","DOI":"10.1172\/JCI108831"},{"key":"atypb18","doi-asserted-by":"publisher","DOI":"10.1172\/JCI106149"},{"key":"atypb19","doi-asserted-by":"publisher","DOI":"10.1542\/peds.49.6.837"},{"key":"atypb20","doi-asserted-by":"publisher","DOI":"10.1042\/cs0420113"},{"key":"atypb21","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1542\/peds.57.2.221","volume":"57","author":"Arnaud SB","year":"1976","journal-title":"Pediatrics"},{"key":"atypb22","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1981.tb05553.x"}],"container-title":["Clinical Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/000992288302200205","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/000992288302200205","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:25:01Z","timestamp":1777393501000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/000992288302200205"}},"subtitle":["Senior's Syndrome Associated with Relative Parathyroid Insufficiency"],"short-title":[],"issued":{"date-parts":[[1983,2]]},"references-count":22,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1983,2]]}},"alternative-id":["10.1177\/000992288302200205"],"URL":"https:\/\/doi.org\/10.1177\/000992288302200205","relation":{},"ISSN":["0009-9228","1938-2707"],"issn-type":[{"value":"0009-9228","type":"print"},{"value":"1938-2707","type":"electronic"}],"subject":[],"published":{"date-parts":[[1983,2]]}}}