Table 4 Clinical manifestations of systemic organ involvement caused by pathogenic variants in ALMS1 gene
From: New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome
Literature | General manifestation | ||||||
|---|---|---|---|---|---|---|---|
Obesity | Heart | Kidney | Diabetes | Hormone level | Hearing | Others | |
Torkamandi et al.[14] | + | Diastolic dilated cardiomyopathy | Renal ultrasound shows hyperechoic renal medulla | Type II diabetes | Hypertriglyceridemia, hyperlipidemia | Neurological hearing loss from age 4 | Acanthosis nigricans |
Etheridge T et al.[15] | + | Dilated cardiomyopathy | - | - | Elevated triglyceride | Mild hearing loss | Cryptorchidism, history of Burkitt's lymphoma, family history of consanguineous marriage |
Nasser F et al.[16] | + | Myocarditis cardiomyopathy | - | Type II diabetes | Elevated transaminase level | Hearing loss | Inactive thyroid nodules, hypogonadism |
Gatticchi et al.[17] | - | Decreased left ventricular function | Diapers are still needed up to age 3 | - | Hypercholesterolemia and hypertriglyceridemia | Chronic cicatricial inflammation of the middle ear, hearing loss | Biopsy specimens from pharyngeal bronchoscopy showed reduced cilia number and attention deficit and hyperkinetic behavior; |
Aldrees A, et al.[18] | + | Not mentioned | Not mentioned | Not mentioned | Not mentioned | Neurological hearing loss | Family history of consanguineous marriage |
Dassie F et al.[19] | + | Cardiological disorders | Not mentioned | Type II diabetes | hepatic steatosis | mild bilateral sensorineural hearing loss | difficulties in the auditory working memory with ideomotor and buccofacial apraxia |