Marasmic kwashiorkor

E4_MARAKWASH

kwashiorkor: A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)

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Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 E42
  • Cause of death: ICD-10 E42

2 out of 7 registries used, show all original rules.

80

4. Check minimum number of events

None

80

5. Include endpoints

None

80

6. Filter based on genotype QC (FinnGen only)

80

Control definitions (FinnGen only)

Control exclude
E4_MALNUTRITION

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E40-E46
Name in latin
Malnutritio gravis ex deficientia proteino-energetica

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 1073 584 487
Only index persons 804 455 349
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.01
Only index persons 0.02 0.02 0.01
Median age at first event (years)
Whole population 58.77 60.88 56.20
Only index persons 62.87 64.42 60.86

-FinnGen-

Key figures

All Female Male
Number of individuals 80 48 32
Unadjusted period prevalence (%) 0.02 0.02 0.01
Median age at first event (years) 56.70 54.98 59.28

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS (R11)

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.

Matched cohort

Matched cases
73
Matched controls
728
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E42
ICD-10 Finland
Marasmic kwashiorkor
+∞
104.9
73
*
601
Kela drug reimbursment
Severe malabsorption of nutrients, mainly fats
67.1
14.5
16
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
8.5
13.4
33
64
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
12.9
12.7
23
25
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
5.5
10.5
40
131
Z98.8
ICD-10 Finland
Other specified postsurgical states
47.0
10.3
12
*
GD1AA
NOMESCO Finland
Thorax X-ray examination
4.4
8.4
47
212
Z71.3
ICD-10 Finland
Dietary counselling and surveillance
10.4
8.3
16
19
L04AD02
ATC
tacrolimus; systemic (calcineurin inhibitors)
50.6
7.9
9
*
JF1AB
NOMESCO Finland
Passage examination of small bowell with X-ray
28.5
7.8
10
*
Z04.8
ICD-10 Finland
Examination and observation for other specified reasons
6.1
7.8
22
48
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
5.5
7.4
23
56
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
5.1
7.1
24
64
TPH90
NOMESCO Finland
Removal of fixed intravenous catheter
11.7
6.8
12
12
N10
ICD-10 Finland
Acute tubulo-interstitial nephritis
5.9
6.7
19
41
127
Kela drug reimbursment
Transplant complication
20.2
6.4
9
5
123
Kela drug reimbursment
Chronic disorders of vitamin D metabolism
20.2
6.4
9
5
138
Kela drug reimbursment
Severe anaemia associated with chronic renal failure
29.5
6.4
8
*
T81.4
ICD-10 Finland
Infection following a procedure, not elsewhere classified
5.8
6.3
18
39
R63.8
ICD-10 Finland
Other symptoms and signs concerning food and fluid intake
+∞
6.3
6
*
RD210
NOMESCO Finland
NA
11.5
6.3
11
11
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
5.8
6.1
17
36

Mortality – FinRegistry

Association

Association between endpoint E4_MARAKWASH and mortality.

Females

Parameter HR [95% CI] p-value
E4_MARAKWASH 5.458 [2.91, 10.24] < 0.001
Birth year 0.993 [0.98, 1.0] 0.121

During the follow-up period (1.1.1998 — 31.12.2019), 139 out of 423 females with E4_MARAKWASH died.

Males

Parameter HR [95% CI] p-value
E4_MARAKWASH 5.927 [2.85, 12.32] < 0.001
Birth year 0.986 [0.98, 1.0] 0.003

During the follow-up period (1.1.1998 — 31.12.2019), 143 out of 376 males with E4_MARAKWASH died.

Mortality risk

Mortality risk for people of age

years, who have E4_MARAKWASH.

N-year risk Females Males
1 0.551% 1.038%
5 3.196% 6.602%
10 7.482% 16.39%
15 14.462% 28.837%
20 23.039% 44.041%

Relationships between endpoints

Index endpoint: E4_MARAKWASH – Marasmic kwashiorkor

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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