Table I. Clinical features of ALMS patients.
Phenotypes of ALMS patients at the time of evaluation.
| CASE | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age (years) | 18 | 19 | 21 | 23 | 28 | 33 | 44 | 24 | 25 | 30 | 32 | 52 |
| Gender | M | M | M | M | M | M | M | F | F | F | F | F |
| ALMS1 mutation | / | YES | YES | / | YES | YES | YES | YES | YES | YES | YES | YES |
| Retinopathy | YES | YES§ | YES | YES | YES | YES | YES | YES | YES | YES | YES | YES |
| Hearing impairment | YES | YES | YES | YES | YES | YES | YES | YES | YES | YES | YES | YES |
| Dilated cardiomyopathy | / | YES | / | / | / | / | YES | YES | / | / | / | YES |
| Respiratory disorders | YES | YES | / | / | / | / | / | / | / | / | / | YES |
| Nephropathy | / | YES | / | YES | YES | / | YES | YES | / | / | / | YES |
| Hepatic disorders | YES | YES | / | / | YES | / | YES | YES | YES | YES | YES | / |
| Hypertriglyceridaemia | YES | / | YES | YES | YES | YES | / | YES | / | YES | YES | YES |
| Type 2 diabetes | YES | IGT | / | YES | YES | IGT | IGT | / | YES | / | YES | / |
| Hypothyroidism | / | YES | / | YES | / | / | / | YES | YES | YES | / | / |
| Gonadal dysfunctions | / | YES | YES | / | YES | YES | / | YES | YES | / | / | / |
| Low stature | YES | / | YES | YES | YES | YES | YES | YES | YES | YES | YES | YES |
| State of feeding | OVR | OVR | OVR | OVR | OB | OVR | OVR | OVR | OB | OB | NRM | OVR |
| GHRH + Arginine test | N.A. | N | N | N | N | GHD | N | GHD | N | N.A. | GHD | GHD |
| IGF-I | N.A. | 2.3 | 1.5 | 1.3 | 0.3 | 1.49 | 1.3 | 1.1 | 0.81 | N.A. | 1.62 | 1.22 |
| Hypotalamic-pituitary MRI | N.A. | MRI | MRI | N.A. | MRI | MRI | N.A. | MRI | PES | N.A. | MRI | N.A. |
| CASE | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | 22 | 23 |
| Age (years) | 3 | 4 | 6 | 11 | 1 | 2 | 2 | 7 | 10 | 12 | 14 |
| Gender | M | M | M | M | F | F | F | F | F | F | F |
| ALMS1 mutation | YES | YES | YES | YES | YES | YES | YES | YES | YES | YES | / |
| Retinopathy | YES | YES | YES | YES | YES | YES | YES | YES | YES | YES | YES |
| Hearing impairment | / | / | / | YES | / | YES | / | / | YES | YES | YES |
| Dilated cardiomyopathy | / | YES | / | YES | YES | YES | / | YES | YES | YES | YES |
| Respiratory disorders | / | YES | / | YES | / | / | / | YES | / | YES | YES |
| Nephropathy | / | / | / | YES | / | YES | / | / | / | YES | / |
| Hepatic disorders | / | / | YES | YES | / | YES | / | YES | YES | YES | YES |
| Hypertriglyceridaemia | / | / | / | / | / | / | / | / | / | / | YES |
| Type 2 diabetes | / | / | / | YES | IFG | / | / | / | YES | / | YES |
| Hypothyroidism | / | / | / | / | / | / | / | / | / | YES | YES |
| Gonadal dysfunctions | / | / | / | / | / | / | / | / | / | / | / |
| Low stature | / | / | / | / | N.A. | / | / | / | / | YES | / |
| State of feeding | OB | OB | OB | NRM | OB | UDR | OB | OB | OB | OVR | OVR |
| GHRH + Arginine test | N.A. | N.A. | N.A. | GHD | N.A. | N.A. | N.A. | N.A. | N.A. | GHD | N.A. |
| IGF-I | N.A. | N.A. | N.A. | 1.05 | N.A. | N.A. | N.A. | N.A. | N.A. | 0.9 | N.A. |
| Hhypotalamic-pituitary MRI | MRI | N.A. | MRI | MRI | N.A. | N.A. | N.A. | MRI | MRI | N.A. | N.A. |
Cases for whom GH secretion studies were carried out are indicated in bold. M= male; F = female; /= not present; N= normal reponse §= residual visual acuity; n.a. = not available; IGT= impaired glucose tolerance; IFG= impaired fasting glycemia; OVR= overweight; OB= obese; NRM= normal weight; UDR= underweight; GH= Growth Hormone; IGF-I= Insulin-like Growth Factor-I; MRI= magnetic resonance imaging; PES= partial empty sella; GHD= biochemical growth hormone deficiency. IGF-I was calculated as the ratio of patient’s value to the lower normal limit (pathologic when <1). Respiratory disorders included asthma, restrictive ventilatory defect or bronchiectasis with frequent pulmonary infections. Nephropathy is defined by elevation of blood urea nitrogen or creatinine or abnormal glomerular filtration rate assessed by renal scintigraphy. Hepatic disorders consisted of elevation of transaminases or liver steatosis observed by ultrasonography.