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Table 1 Information on the clinical symptoms of the three-generation family

From: A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3

 

Serum creatininea (Scr)

Estimated glomerular filtration rateb (eGFR)

Urine routine and renal function

I-2

788 μmol/L (↑)

 < 15 ml/min ·1.73 m2 (↓)

CKDc stage 5

II-2

69 μmol/L

102.25 ml/min ·1.73 m2

Normal

III-1

44 μmol/L (↓)

177.36 ml/min ·1.73 m2 (↑)

Normal

  1. aThe normal reference range of serum creatinine is 48–79 μmol/L
  2. bThe normal reference range of the estimated glomerular filtration rate is 56–122 ml/min 1.73 m2
  3. cCKD chronic kidney disease
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172