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Table 1 Investigations of the six patients (abnormal values are in bold)a

From: A case series of distal renal tubular acidosis, Southeast Asian ovalocytosis and metabolic bone disease

Investigations

Patient 1

Patient 2

Patient 3

Patient4

Patient 5

Patient 6

Year presented

1995

2016

2016

2016

2016

2016

2016

K+ mmol/L (3.5–5)

1.5

2.7

2.3

2.1

2.5

2

2.4

Na+mmol/L (135–145)

135

138

135

140

140

136

140

Cl− mmol/L (96–106)

110

109

110

106

108

110

112

pH (7.35–7.45)

7.30

7.28

7.40

7.40

7.30

7.42

7.40

pCO2 mmHg (35–45)

26

20

30

28

30

31

32

HCO3 mmol/L (20–28)

13.0

8.8

16.0

14.6

15.7

16.0

16.5

Anion gap1 (4–12)

12.0

20.2

9.0

19.4

16.3

10.4

11.5

Delta ratio2

0

0.53

−1.1

0.78

0.5

−0.2

−0.06

Urine pH3 (4.5–8)

6.5

6.5

6.8

6.5

6.6

7.5

7.5

Urine K+

mmol/L(25–125)

32

40

75

55

45

46

30

Urine Na+

mmol/L(50–125)

54

102

111

85

130

90

110

Urine Cl− mmol/L(25–40)

55

85

110

105

120

58

65

UAG4

31

57

76

35

55

78

75

Serum Creatinine μmol/L (eGFR ml/min)

88 (70)

126 (39)

60 (89)

236 (25)

125 (58)

94 (72)

86 (61)

Ultra sound scan abdomen

Normal

B/L MNb

CKD

Normal

CKD

CKD

B/L MNb

Normal

Ca++ mmol/L (2.1–2.6)

2.12

2.10

2.10

1.94

1.95

2.50

2.10

PO4 mmol/l (0.8–1.5)

0.6

1.13

0.8

0.94

0.5

1.2

1.2

ALP u/l (80–380)

84

1958

86

550

807

103

544

TSH (0.4–4) micro Iu/ml

NA

Normal

Normal

Normal

Normal

Normal

6.31

PTH pg/ml (8.8–76.6)

NA

96.8

24.7

78

28.7

NA

NA

X-ray

 

Reduced bone density, loosers zones and pathological fracture

Normal

Diffuse osteo-sclerosis

Diffuse osteo-sclerosis

Normal

Normal

Haemoglobin (g/dL)

 

9.3

11.3

10.6

13

13.6

12.4

Mean corpuscular volume (MCV) (80-96 fl)

 

106.6

103

109

103.9

105

98

Reticulocyte count (0.5–1.5%)

 

1.5

1.2

1.4

1.2

0.9

1.2

Blood Film

 

SAO

SAO

SAO

SAO

SAO

SAO

  1. 1Anion gap = Na - (Cl + HCO3)
  2. 2Delta Ratio = change in Anion Gap (AG-12)/change in bicarbonate (24-[HCO3−]) [5]
  3. Interpretation
  4. < 0.4 = hyperchloraemic normal anion gap metabolic acidosis
  5. 0.4–0.8 = combined normal & high anion gap metabolic acidosis
  6. 1–2 = uncomplicated high anion gap metabolic acidosis
  7. > 2 = could be due to a pre-existing metabolic alkalosis, or to compensation for a pre-existing respiratory acidosis (ie compensated chronic respiratory acidosis)
  8. 3Depending on the person’s acid-base status, the pH of urine may range from 4.5 to 8. Patients with normal renal function and normal renal acidification mechanisms who develop metabolic acidosis usually have a urine pH of 5.3 or less
  9. 4Urine anion gap (UAG) = Urine (Na + K-Cl). A positive UAG is consistent with low or normal NH4 excretion and a negative UAG is consistent with increased NH4 excretion
  10. aUrine microscopy was normal and sediment was bland in all patients. Serum albumin was within normal limits in all patients
  11. bB/L MN Bilateral medullary nephrocalcinosis
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BMC Nephrology

ISSN: 1471-2369

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