Skip to main content

Table 1 Frequency and time of presentation of varied non-hematological complications

From: Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure

 

Ying, 2022 (n = 139*)

Reynolds, 2021 (n = 42**)

Yoshimi, 2021 (n = 25)

Rötig, 1995 (n = 21)

Symptoms/organ dysfunctions

%

%

average age

%

median age

%

median age

   

(months)

 

(range, months)

 

(range, months)

Failure to thrive

49

89

–

72

12 (3–92)

–

–

Muscle hypotonia

12

71

–

52

24 (7–77)

–

–

Pancreatic insufficiency

40

47

20

56

12 (3–31)

57

12 (5–42)

Liver dysfunction

-

66

8

16

18 (10–30)

33

23 (7–36)

Renal disorders

43

80

–

–

–

–

–

(tubulopathy/Fanconi syndrome)

-

37

48

32

41 (21–121)

24

30 (23–45)

Cardiac abnormality/arrhythmia

20

66

 

20

66 (31–183)

–

–

(cardiac conduction diseases)

–

(17)

(107)

–

–

–

–

Adrenal insufficiency

–

30

57

8

66 (65–67)

  

Diabetes mellitus

18

22

111

4

19

10

30 (24–36)

Ophthalmological problem

24

86

–

20

39 (19–92)

–

–

Hearing impairment

3

31

100

4

115

  
  1. Data of the most recent review by Ying et al. and 3 largest cohorts of patients with Pearson syndrome (PS) in literatures are displayed (5–7, 31).*The cohort from Ying et al. includes the cases reported by Rötig et al. **The study by Reynolds et al. is based on patient reported outcomes, and the cohort includes 34 cases with PS and 8 pediatric cases with Kearns-Sayre syndrome