Table 3.
Clinical characteristics and laboratory results of nine Dutch adults with PWS and microalbuminuria or elevated UACR.
| Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 | Case 7 | Case 8 | Case 9 | |
|---|---|---|---|---|---|---|---|---|---|
| CKD stage (35) | G?A2a | G?A2a | G1A1 | G1A2 | G1A2 | G1A3 | G1A2 | G1A2 | G1A2 |
| Age at urine sample, years | 29 | 47 | 25 | 36 | 25 | 26 | 27 | 52 | 25 |
| Gender | Female | Female | Female | Male | Male | Female | Female | Female | Male |
| Genotype | Del, atypical | mUPD | Del type 2 | Del, atypical | mUPD | Del type 1 | Other | Del type 2 | Del, atypical |
| BMI (kg/m2) | 28.6 | 31.8 | 40.8 | 23.8 | 28.1 | 37.4 | 23.3 | 38.5 | 21.8 |
|
Alcohol usage/week Smoking/day |
0 0 |
NA NA |
0 0 |
NA NA |
1 0 |
NA NA |
1.5 0 |
NA 0 |
0.8 7 |
| GH treatment | Never | Never | Only as child | Only as child | Started as child, ongoing | Only as child | Started as child, ongoing | Never | Started as child, ongoing |
|
Comorbidities
Diabetes Pre-existing hypertension Hypertension treatment Blood pressure systolic/diastolic (mmHg) Hypercholesterolemia Hypothyroidism Hypotthyroidism treatment |
No No NA 141/87 No No No |
No Yes None 190/95 No Subclinical No |
No Yes ATII NA No No No |
No No NA NA No No No |
IGT Yes CA 156/105 No No No |
No No ACE-I 145/106b No Yes Yes |
IGT No NA 140/80 No Yes Yes |
No Yes ACE-I 137/79 In the past Yes Yes |
No No NA 122/66 No No No |
|
Serology
Serum creatinine (µmol/L) eGFR (mL/min/1.73m2) LDL cholesterol (mmol/L) |
NA NA NA |
NA NA NA |
47 132 3.2 |
67 117 2.1 |
74 122 2.8 |
65 113 4.1 |
56 123 3.5 |
66 92c 4.0 |
59 134 2.1 |
|
Urine
Protein Leukocytosis Nitrite Total protein (g/L) UPCR (mg/mmol) Microalbuminuria (mg/L) UACR (mg/mmol) |
Neg Pos Pos <0.06 NA 6.0 3.8 |
Trace Pos Neg 0.15 30.1 61.3 12.3 |
Trace 2+ Pos 0.08 0.07 20.6 1.9 |
+ 1+ Neg 0.2 NA 26 NA |
Trace Neg NA 0.22 11.3 80.7 4.1 |
+ Neg Neg 0.77 74.0 570 54.8 |
Neg 4+ Neg 0.12 43.0 65 23.2 |
Neg Pos Neg NA NA 37.4 10.7 |
NA NA NA 0.05 11.0 25 5.8 |
| Persistent microalbuminuria | NA | NA | NA | NA | Yes | Yes | No | NA | No |
Angiotensin-converting enzyme inhibitor (ACE-I), angiotensin-II receptor antagonist (ATII), body mass index (BMI), calcium antagonist (CA), chronic kidney disease (CKD), deletion (del), estimated glomerular filtration rate (eGFR), growth hormone (GH), impaired glucose tolerance (IGT), low-density lipoprotein (LDL), maternal uniparental disomy (mUPD), not available (NA), urinary albumin-to-creatinine ratio (UACR), urinary protein-to-creatinine ratio (UPCR). a No recent eGFR available, based on previous laboratory results, CDK stage for both case 1 and 2 would be G1A2. b 30 minute blood pressure evaluation was performed as hypertension was not previously diagnosed, 24 hour urine sample showed evident proteinuria and patient was treated with an ACE-inhibitor. c When applying PWS adjusted reference values, eGFR is mildly decreased (<93 mL/min/1.732 in females).