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Table 1 Clinical presentation of the 25 Tunisian children with dRTA

From: Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1genes

Case

Symptoms

Age at diagnosis (months)

P pH

P Bicarbonate mEq/L

P K mEq/L

U pH

Nephro calcinosis

1.1

Vomits, growth failure

6

7.3

10.4

2.26

7

Yes

2.1

Vomits, growth failure

7

7.22

9.7

3

6.5

Yes

3.1

Growth failure

1.3

7.14

7

2.3

6

Yes

3.2

Speech delay, growth failure, rickets

36

7.21

12.3

2.7

7

Yes

4.1

Dehydration

1.3

7.21

10.4

4.1

6.5

Yes

5.1

Vomits, diarrhea, growth failure

3

7.3

6.9

4.06

7.5

Yes

5.2

Growth failure, dehydration

3.5

7.25

8.3

4.65

6

Yes

6.1

Growth failure, fever

3

7.34

12.4

3.82

7

Yes

7.1

Loss of weight, dehydration, fever, vomits, diarrhea

4

7.29

12.1

2.43

6

No

7.2

Growth failure, dehydration, polyuria, urine infection

11

7.17

8.5

2.9

7

Yes

8.1

Fever, vomits, growth failure

3.3

7.3

8.6

2.68

7

Yes

9.1

Vomits, dehydration, vitamin D-resistant rickets

1

7

NA

4.22

8

Yes

10.1

Vomits, dehydration, leukocyturia

3

7.3

11.4

2

7

Yes

10.2

Dehydration, vomits

6

7.4

14.5

3.2

6.5

Yes

11.1

Diarrhea, vomits, polyuria, rickets

16

7.32

11.6

3.12

NA

NA

12.1

Vomits, dehydration, growth failure

5

7.28

NA

2.4

7.5

Yes

13.1

Vomits after each feeding

1

7.23

11.3

7.2

7

Yes

14.1

Dehydration, respiratory distress

0.8

7.1

3.4

2

8

Yes

15.1

Dehydration, vomits, feeding difficulties

1.5

7.19

8.4

3.5

7

Yes

16.1

Vomits, feeding difficulties, severe dehydration, diarrhea, vitamin D-resistant rickets, severe osteopenia

18

7.18

9.6

NA

7.5

Yes

16.2

Hypotonia, failure to thrive, severe vitamin D-resistant rickets, inability to walk, dumb

17

7.15

9.4

4.1

NA

Yes

17.1

Vomits, dehydration, respiratory infection, breathing difficulties

0.9

7.29

12.5

3.11

8

Yes

18.1

Dehydration, vomits, polyuria

2

7.15

6.1

3.9

7

Yes

19.1

Bronchiolitis and cough

3

7.13

8.8

3.8

8

No

20.1

Dehydration, axial hypotonia, hypotrophy

2.3

7.39

9

2.2

8

Yes

  

6.27 (0.8–36)*

7.23 ± 0.15**

9.67 ± 0.62**

3.3 ± 0.83**

7 ± 0.67**

 

*** (mEq/L)

  

7.35-7.45

22-28

3.5-5

5.5-6.5

 
  1. Abbreviations: P (plasma), U (urine), NA (not available). *:median (range); **:mean value ± SD; ***:normal ranges.