title: Combined occurrence of Alström syndrome and bronchiectasis.
abstract: Alström syndrome (Online Mendelian Inheritance in Man ALMS #203800) is a rare hereditary disorder caused by mutations in the gene ALMS1. This rare disorder's 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's 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>G; p.Tyr1862* and c.2905insT; p.L968fs*4 were detected in the ALMS1 gene. Saccharin test was positive. We emphasize that Alström syndrome may be complicated by bronchiectasis.
authors.affiliation: Departments of Pediatric Endocrinology.
authors.forename: Avni
authors.initials: A
authors.lastname: Kaya
authors.forename: Zerrin
authors.initials: Z
authors.lastname: Orbak
authors.forename: Atilla
authors.initials: A
authors.lastname: Cayir
authors.forename: Hakan
authors.initials: H
authors.lastname: Döneray
authors.forename: Sener
authors.initials: S
authors.lastname: Tasdemir
authors.forename: Aysegül
authors.initials: A
authors.lastname: Ozantürk
authors.forename: Fatih
authors.initials: F
authors.lastname: Bingöl
mesh_terms: D000293:Adolescent; D056769:Alstrom Syndrome / Q000150:complications* / Q000175:diagnosis*; D001987:Bronchiectasis / Q000150:complications* / Q000175:diagnosis*; D005260:Female; D006801:Humans
keywords: Acanthosis nigricans; bronchiectasis; diabetes mellitus