Table 1.
Summary of Clinical Phenotype of 13 Subjects with PCSK1 Mutations
| ID # | 1 | 2 | 3 | 4 | 5a | 5b | 6a | 6b | 7 | 8 | 9 | 10 | 11 | Summary |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ethnicity | Hispanic | Indian | Turkish | Turkish | African | African | Arab | Arab | Turkish | Arab | Turkish | Turkish | Canadian | Diverse |
| Sex | M | M | F | M | M | M | M | M | M | M | M | F | M | 11 of 13 male |
| Outcome; Age | Alive; 7.5 yo | Alive; 6 yo | Alive; 15 yo | Dead @ 8 mo; sepsis | Alive; 3.7 yo | Alive; 9.3 yo | Alive; 12.8 yo | Alive; 2.9 yo | Dead @ 15 mo; sepsis | Alive; 5.5 yo | Alive; 3.8 yo | Alive; 3.0 yo | Alive; 17 yo | 11 of 13 alive χ 7.7 +/−4.8 |
| Consanguinity | Yes | Yes | Yes | Yes | No | No | Yes | Yes | Yes | Yes | Yes | Yes | No | Yes, 12 of 13 |
| Family history | No | No | No | No | Yes; #87b | Yes; #87a | Yes, 2; 1 died & #113 | Yes, 2; 1 died & #88 | No | Yes; 1 died @ 5 yo | No | Yes; died | No | Yes, 4 of 12 |
| Birth Wt Kg | 3.85 | 3.3 | 3.3 | 3.1 | 3.55 | 3.7 | 3.13 | 2.95 | 3.2 | 3.1 | 3.8 | 3.6 | 3.5 | χ3.4+/−0.3 |
| Age presented | 3 wk | 1 wk | 1 wk | 1 wk | 1 wk | 1 wk | 2 wk | 1 wk | 4 wk | 8 wks | 3 wk | 2 wk | 2 wk | χ 2.3 +/−1.9 |
| Generalize malabsoprtion | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes, 13 of 13 |
| Intest. Biopsy; Normal | Yes | Yes | No; mild villus atropy | Yes | No; villus atropy; eos | Not done | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes, 0 of 12 normal |
| Chronic IV Nut (age start; end) | Yes (1 to 16 mo) | Yes (3 to 12 mo) | Yes (10 to 34 mo) | Yes (4 to 8 mo) | Yes (1 to 20 mo) | Never treated w/ IV Nut | Yes (1.5 to 11 mo) | Yes (1 to 12 mo) | Yes (3 to 15 mo) | Yes (6 to 14 mo) | Yes (10 to 23 mo) | Yes (1 to 12 mo) | Yes (1 to 12 mo) | Yes, 12 of 13 |
|
Early growth: FTT/age; WT Z score |
Yes/2mo; WT Z −1.3 | Yes/2mo; WT Z −2.1 | Yes/10mo; WT Z −6.56 | Yes/4 mo; WT Z −5.63 | Yes/1 wk; WT Z−1.7 | Yes/6 mo; WT Z−6.6 | Yes/2 mo; WT Z−2.66 | Yes/2 wk; WT Z−2.5 | Yes/3 mo; WT Z−3.24 | Yes/2 mo; WT Z −4.0 | Yes/4 mo; WT Z−1.9 | Yes/2.5 mo; WT Z−2.24 | Yes/1 mo; WT Z−3.15 | Yes, 13 of 13 χ −3.35+/−1.8 |
|
Late growth: Obese/age WT Z score HT Z score |
Yes/7.7 yo; BMI Z+2.4 WT Z+1.81 HT Z−1.4 |
N/A | Yes/15yo; BMI Z+1.7 WT Z+1.0 HT Z−1.78 |
N/A | Yes/3.7yo; BMI Z+2.7 WT Z+1.4 HT Z−0.7 |
Yes/9.3 yo; BMI Z+2.33 WT Z+2.15 HT Z−0.21 |
Yes/12.8yo; BMI Z+2.6 WT Z +2.5 HT Z−0.6 |
Yes/2.9yo; BMI Z+2.55 WT Z+0.0 HT Z−2.8 |
N/A | No/5.5yo; BMI Z+0.2 WTZ −1.21 HT Z −1.26 |
Yes/3.5yo; BMI Z+3.62 WT Z +2.18 HT Z −0.68 |
Yes/2.4 yo; BMI Z+3.43 WT Z +2.7 HT Z−0.1 |
Yes/17 yo; BMI Z+2.36 WTZ+2.03 HT Z−1.12 |
Yes, 9 of 10 BMI +2.5+/− 0.9 WT +1.5+/− 1.2 HT−1.0+/− |
| Proinsulin | ND | ND | ND | ND | Elevated | Elevated | Elevated | Elevated | ND | Elevated | Elevated | ND | Elevated | 7 of 13 |
| Postprandial hypoglycemia | Yes | Yes | Yes | No | Yes | Yes | No | No | Yes | No | Yes | Yes | No | 8 of 13 |
| Polydipsia& Polyuria | Yes | Yes | Yes | No | Yes | Yes | Yes | No | Yes | Yes | Yes | Yes | Yes | 11 of 13 |
| Diabetes Insipidus confirmed; Age, treated | Yes, @ 18 mo; DDAVP | N/A | Yes, @3.5 yo; DDAVP | N/A | N/A | Yes, @ 13.5 mo; DDAVP | Yes, @ 1 mo; DDAVP | N/A | N/A | No | Yes, @ 13 mo; DDAVP | Yes, @ 19 mo; DDAVP | Yes, @3 yo; not responsive to DDAVP | 7 of 13 |
| Hypogonadism | Micropenis | N/A | Yes, delay puberty | N/A | No | Micropenis; hypospadias | No | No | No | No | No | N/A | Micropenis; delay puberty | 4 of 13 |
| Hypoadrenalism confirmed; Age, treated | Yes, @6.5 yo | N/A | Yes, @5.5 yo | No | Yes, @12mo | Yes, @6mo | Yes, @1mo | Yes, @ 3 mo | N/A | No | Yes, @ 14 mo; hydrocortisone with stress | Yes, @ 19 mo; hydrocortisone | No | 8 of 13 |
| GH deficiency confirmed; Age, treated | N/A | N/A | Yes, @5.5 yo | N/A | No | No | Yes, @9.5yo | Yes, @2.5 yo | N/A | No | No | No | Yes, @ 14 yo | 4 of 13 |
| Hypothyroid confirmed; Age, treated | Yes, @6.5 yo | N/A | Yes, @5.5 yo | No | No | No | Yes, @ 1 mo | Yes, @ 3 wk | Yes, @ 1 mo | Yes, @ 4 mo | No | Yes, 29 mo | Yes, @ 17 yo | 8 of 13 |
N/A, not assessed; Yes, confirm symptom or test; No, does not have symptom, or the test was negative; yo (years-of-age); mo (months-of-age).