{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,28]],"date-time":"2024-05-28T10:40:14Z","timestamp":1716892814527},"reference-count":7,"publisher":"Scientific Scholar","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Mutations in the HNF-1\u03b2 gene have been found to be associated with renal cysts and diabetes syndrome (RCAD), also known as MODY5. The mutation is inherited in an autosomal dominant fashion, although sporadic mutations can be seen. Pediatric cases of HNF - 1\u03b2 mutations are more likely to present with renal involvement like renal failure or renal hypoplasia. In young individuals, the detection of renal abnormalities usually pre-date the diagnosis of diabetes with a mean age of 24 years. We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic mutation in the Hepatocyte Nuclear Factor-1\u03b2 (<jats:italic toggle=\"yes\">HNF-1\u03b2<\/jats:italic>) gene on chromosome 17q12. This case expands the clinical spectrum of HNF-1\u03b2 mutation disorders with a take home message, that end stage renal disease patients with unexplained hypertriglyceridemia (even in absence of diabetes mellitus) should alert a clinician for HNF-1\u03b2 mutational analysis.<\/jats:p>","DOI":"10.4103\/ijn.ijn_108_23","type":"journal-article","created":{"date-parts":[[2023,11,7]],"date-time":"2023-11-07T12:00:13Z","timestamp":1699358413000},"source":"Crossref","is-referenced-by-count":0,"title":["A Boy with End-stage Kidney Disease and Hypertriglyceridemia"],"prefix":"10.25259","author":[{"given":"Manan","family":"Raina","sequence":"first","affiliation":[{"name":"Hawken High School, Cleveland, OH, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Savita","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology, Kidney Institute, Gurgaon, Haryana, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kanika","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Clinical Genetics and Pediatrics, Medanta, The Medicity, Gurgaon, Haryana, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sidharth K.","family":"Sethi","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology, Kidney Institute, Gurgaon, Haryana, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","published-online":{"date-parts":[[2023,11,6]]},"reference":[{"key":"R1-20231107","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1681\/ASN.2015050544","article-title":"Hepatocyte nuclear factor 1\u03b2-associated kidney disease:More than renal cysts and diabetes","volume":"27","author":"Verhave","year":"2016","journal-title":"J Am Soc Nephrol"},{"key":"R3-20231107","doi-asserted-by":"crossref","first-page":"17586","DOI":"10.1038\/s41598-022-22327-5","article-title":"Multiomics analysis reveals that hepatocyte nuclear factor 1? regulates axon guidance genes in the developing mouse kidney","volume":"12","author":"Shao","year":"2022","journal-title":"Sci Rep"},{"key":"R4-20231107","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1007\/s00592-017-1007-9","article-title":"Hepatocyte nuclear factor 1\u03b2maturity-onset diabetes of the young in a Chinese child presenting with hyperglycemic hyperosmolar state","volume":"54","author":"Luo","year":"2017","journal-title":"Acta Diabetol"},{"key":"R5-20231107","doi-asserted-by":"crossref","first-page":"2864","DOI":"10.1681\/ASN.2006030277","article-title":"Prevalence of mutations in renal developmental genes in children with renal hypodysplasia:Results of the ESCAPE study","volume":"17","author":"Weber","year":"2006","journal-title":"J Am Soc Nephrol"},{"key":"R6-20231107","doi-asserted-by":"crossref","first-page":"29","DOI":"10.3339\/jkspn.2016.20.1.29","article-title":"The prenatal and postnatal incidence of congenital anomalies of the kidneys and urinary tract (CAKUT) detected by ultrasound","volume":"20","author":"Choi","year":"2016","journal-title":"Child Kidney Dis"},{"issue":"(Suppl 1)","key":"R7-20231107","article-title":"16-OR:Endocrine manifestations of pediatric HNF1B-MODY (MODY 5)","volume":"70","author":"Craven","year":"2021","journal-title":"Diabetes"},{"key":"R8-20231107","first-page":"22","article-title":"Hypertriglyceridemia as a main feature associated with 17q12 deletion syndrome-related hepatocyte nuclear factor 1\u03b2-maturity-onset diabetes of the young","volume":"2022","author":"Thewjitcharoen","year":"2022","journal-title":"Endocrinol Diabetes Metab Case Rep"}],"container-title":["Indian Journal of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.4103\/ijn.ijn_108_23","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,28]],"date-time":"2024-05-28T10:14:58Z","timestamp":1716891298000},"score":1,"resource":{"primary":{"URL":"https:\/\/indianjnephrol.org\/a-boy-with-end-stage-kidney-disease-and-hypertriglyceridemia\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,6]]},"references-count":7,"URL":"https:\/\/doi.org\/10.4103\/ijn.ijn_108_23","relation":{},"ISSN":["0971-4065","1998-3662"],"issn-type":[{"value":"0971-4065","type":"print"},{"value":"1998-3662","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,6]]}}}