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Table 1 Clinical, biological and radiological features of proband and his unaffected brother

From: Two novel homozygous mutations in NPHP1 lead to late onset end-stage renal disease: a case report of an adult nephronophthisis in a Chinese intermarriage family

  Proband (male) Unaffected brother
Age (years) 27 27
Height (cm) 159 161
BMI (kg/m2) 23.4 24.0
Blood pressure (mmHg) 124/80 116/82
Age of onset 27
Onset of ESRD
Hemoglobin (g/L) 131  
Albumin (g/L) 47.7 51.2
Serum creatinine level (μmol/l) 420.0 84
Evaluated glomerular filtration rate (ml/min per 1.73m2) 14.84 109.32
Cystatin-C (mg/L) 2.83 0.88
Uric acid (μmol/L) 489.0 335.0
Parathyroid Hormone (pmol/L) 83.38 4.46
Polyuropolydipsia negative negative
Haematuria negative negative
Proteinuria (g/L) 0.7 negative
Kidneys size (cm) RK: 9.1 × 4.3 × 4.2
LK: 9.0 × 3.7 × 3.3
RK: 9.7 × 4.6 × 4.5
LK: 9.6 × 4.0 × 3.6
Cysts (cm) RK: 1.5 × 1.4
LK: 0.6 × 0.5
none
Abdominal CT scan Normal
Cerebral CT scan Normal
Neurological development delay Normal
  1. “-“represents the examination did not perform. “RK” represents right kidney,” LK” represents left kidney