Skip to main content

Table 1 Clinical features and biochemical data of the female child at the age of symptom-onset, diagnosis and the last follow-up visit

From: Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report

Items

Age of onset

Age of diagnosis

Current age

Normal range

Age (yrs)

0.33

2.5

4.5

 

Manifestation

Vomiting

Growth retardation

Growth normal

 

Height (cm)

60.0 (15th percentile)a

84.0 (< 3rd percentile)a

110.0 (+1SD)a

 

Weight (kg)

5.4 (<15th percentile)a

10.1 (<3rd percentile)a

19.8 (+1SD)a

 

Blood pH

7.20

7.28

7.40

7.35–7.45

Serum K+ (mmol/l)

2.2

2.7

4.4

3.5–5.5

Serum Na+ (mmol/l)

140

138

140

135–145

Serum Cl (mmol/l)

112

115

105

99–110

Serum CO2CP (mmol/l)

18.0

16.7

24.5

22–28

Serum ionized Ca2+ (mmol/l)

1.28

1.33

1.20

1.10–1.30

Serum Cr (μmol /l)

25 (16–26)b

29 (17.7–88.4)b

40 (17.7–88.4)b

 

GFR (ml/min/1.73m2)c

87 (39–114)b

105 (89–165)b

100 (89–165)b

 

Nephrocalcinosis

NA

Yes

Yes

Negative

Urinary pH

7.5

7.0

7.0

< 5.5

Urinary Ca/Cr ratio (mg/mg)

NA

0.63 (0.02–0.50)b

0.35 (0.02–0.41)b

 

Proteinuria

Negative

Negative

Negative

Negative

  1. K potassium, Na sodium, Cl chloridion, CO2CP Carbon Dioxide Combining Power, Ca calcium, Cr creatinine, GFR glomerular filtration rate, apercentiles/standard deviation (SD) scores for height or weight,bFigures in the brackets indicate normal ranges of the corresponding age, cGFR was estimated by Schwartz equation, NA Not available.