Table 2.

Results of laboratory examinations, DEXA scan, and molecular analysis

PatientGenderGFR per Cockcroft-Gault (ml/min per 1.73 m2)Serum ExaminationUrine ExaminationDEXA Scan T ScoreMutation Analysis
Albumin (g/L)Cholesterol (mmol/L)Albumin (mg/10 mmol Creatinine)α-1-MG (mg/10 mmol Creatinine)Right HipL2 to L4
1M131404.9861.17.4−1.8−2.3NPHS1 349 G→A (Glut117Lys)
2M112346.781.06.7−1.2−1.8NPHS1 791 C→G (Pro264Arg) NPHS2 686 G→A (Arg 229Gln)
3M101473.612.42.2NDNDNPHS1 349 G→A (Glut117Lys) NPHS1 791 C→G (Pro264Arg)
4M109444.8187.626.2−0.8−2.5NPHS1 349 G→A (Glut117Lys) NPHS2 686 G→A (Arg 229Gln)
5M101475.97.07.8−2.0−2.8NPHS1 349 G→A (Glut117Lys) NPHS1 791 C→G (Pro264Arg)
6M144395.7347.617.70.0−0.5NPHS1ho349 G→A(Glut117Lys)
7M122493.73.7NDNDND-
8M131425.0360.314.3NDNDNPHS1 349 G→A (Glut117Lys)
9M196434.113.92.50.0−0.8NPHS1 349 G→A (Glut117Lys)
10M123394.05.44.4−2.2−3.6-
11M105424.0ND10.4−1.8−0.9ND
12M185463.521.82.3NDNDNPHS1 349 G→A (Glut117Lys)
13F145295.2NDND−1.9−3.0NPHS1 349 G→A (Glut117Lys)
14F108404.2344.34.4−0.1−0.5-
15F126394.07.93.00.4−0.5-
Reference values>9035 to 524.7 to 6.5Male <20 Female <30<15
  • α-1-MG, α-1- microglobulin; DEXA, dual-energy x-ray absorptiometry; ho, homozygous; ND, not done.