{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T06:02:42Z","timestamp":1759730562212,"version":"3.40.5"},"reference-count":15,"publisher":"American Academy of Pediatrics (AAP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,3,1]]},"abstract":"<jats:p>Alstr\u00f6m syndrome (Online Mendelian Inheritance in Man ALMS #203800) is a rare hereditary disorder caused by mutations in the gene ALMS1. This rare disorder\u2019s characteristics are cone-rod dystrophy resulting in blindness in childhood, insulin-resistant type 2 diabetes mellitus, truncal obesity, progressive sensorineural hearing loss, dilated cardiomyopathy, craniofacial features, hypothyroidism, elevation in liver transaminases, renal insufficiency, gonadal dysfunction, and menstrual irregularities. A 13.5-year-old girl was admitted to the hospital for complaints of excessive water consumption and urination over the previous 2 years. The patient\u2019s parents were third-degree relatives. At physical examination, hyperpigmentation was present over the areola and acanthosis nigricans under the arms and on the neck. Audiologic examination revealed bilateral sensorineural hearing loss, and bilateral cataract was determined at ocular examination. The patient was monitored by the chest diseases department due to bronchiectasis. HbA1c was 13.1%. In mutation screening study, 2 novel mutations c.5586T&amp;gt;G; p.Tyr1862* and c.2905insT; p.L968fs*4 were detected in the ALMS1 gene. Saccharin test was positive. We emphasize that Alstr\u00f6m syndrome may be complicated by bronchiectasis.<\/jats:p>","DOI":"10.1542\/peds.2013-0284","type":"journal-article","created":{"date-parts":[[2014,2,18]],"date-time":"2014-02-18T02:01:59Z","timestamp":1392688919000},"page":"e780-e783","source":"Crossref","is-referenced-by-count":8,"title":["Combined Occurrence of Alstr\u00f6m Syndrome and Bronchiectasis"],"prefix":"10.1542","volume":"133","author":[{"given":"Avni","family":"Kaya","sequence":"first","affiliation":[{"name":"Departments of Pediatric Endocrinology,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zerrin","family":"Orbak","sequence":"additional","affiliation":[{"name":"Departments of Pediatric Endocrinology,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atilla","family":"\u00c7ay\u0131r","sequence":"additional","affiliation":[{"name":"Departments of Pediatric Endocrinology,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hakan","family":"D\u00f6neray","sequence":"additional","affiliation":[{"name":"Departments of Pediatric Endocrinology,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u015eener","family":"Ta\u015fdemir","sequence":"additional","affiliation":[{"name":"Medical Genetics, and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ay\u015feg\u00fcl","family":"Ozant\u00fcrk","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Faculty of Science, Hacettepe University, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatih","family":"Bing\u00f6l","sequence":"additional","affiliation":[{"name":"Otorhinolaryngology, Faculty of Medicine, Ataturk University, Erzurum, Turkey; and"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2014,3,1]]},"reference":[{"key":"2021120903494085800_B1","first-page":"1","article-title":"Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree.","volume":"129","author":"Alstr\u00f6m","year":"1959","journal-title":"Acta Psychiatr Neurol Scand, Suppl"},{"issue":"2","key":"2021120903494085800_B2","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/S0022-3476(96)70394-3","article-title":"Natural history of Alstr\u00f6m syndrome in early childhood: onset with dilated cardiomyopathy.","volume":"128","author":"Michaud","year":"1996","journal-title":"J Pediatr"},{"key":"2021120903494085800_B3","article-title":"Alstrom syndrome","volume-title":"GeneReviews","author":"Marshall","year":"1993"},{"issue":"1","key":"2021120903494085800_B4","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1038\/ng867","article-title":"Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstr\u00f6m syndrome.","volume":"31","author":"Collin","year":"2002","journal-title":"Nat Genet"},{"issue":"12","key":"2021120903494085800_B5","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1038\/sj.ejhg.5201933","article-title":"Alstr\u00f6m syndrome.","volume":"15","author":"Marshall","year":"2007","journal-title":"Eur J Hum Genet"},{"issue":"2","key":"2021120903494085800_B6","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1111\/j.1365-2265.2004.01952.x","article-title":"Hypertriglyceridaemia in Alstr\u00f6m\u2019s syndrome: causes and associations in 37 cases.","volume":"60","author":"Paisey","year":"2004","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"11","key":"2021120903494085800_B7","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1002\/humu.20577","article-title":"Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstr\u00f6m syndrome.","volume":"28","author":"Marshall","year":"2007","journal-title":"Hum Mutat"},{"issue":"6","key":"2021120903494085800_B8","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1001\/archinte.165.6.675","article-title":"New Alstr\u00f6m syndrome phenotypes based on the evaluation of 182 cases.","volume":"165","author":"Marshall","year":"2005","journal-title":"Arch Intern Med"},{"journal-title":"European Journal of Human Genetics","article-title":"Clinical utility gene card for: Alstrom syndrome - 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