Combined Occurrence of Alström Syndrome and Bronchiectasis
| Autor: | Aysegul Ozanturk, Sener Tasdemir, Avni Kaya, Hakan Doneray, Zerrin Orbak, Fatih Bingöl, Atilla Cayir |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Pediatrics
medicine.medical_specialty Bronchiectasis Adolescent medicine.diagnostic_test business.industry Type 2 Diabetes Mellitus Physical examination medicine.disease Surgery Pediatrics Perinatology and Child Health medicine OMIM : Online Mendelian Inheritance in Man Humans Female Sensorineural hearing loss Craniofacial business Acanthosis nigricans Alstrom Syndrome Alström syndrome |
| Zdroj: | Pediatrics. 133:e780-e783 |
| ISSN: | 1098-4275 0031-4005 |
| DOI: | 10.1542/peds.2013-0284 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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