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Table 1 The clinical characteristics of four patients with neonatal-onset watery diarrhea

From: Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia

  

Patient 1

Patient 2

Patient 3

Patient 4

Gender

 

Male

Male

Male

Male

Birth weight (g)

 

2600

3340

3020 

3300

Gestation age (weeks)

 

34

40

35 + 5

40 + 3

Age at onset of diarrhea

 

10 days

 < 3 days

After birth

28 days

Family history

 

No

No

No

No

Age at admission to our hospital

 

23 months

17 days

Born in our hospital

42 days

Weight at admission (g)

 

6800

2700

3020

3518

Age at diagnosis

 

27 months

45 days

6 months

3 months

Weight at diagnosis (g)

 

8200

2955

6700

4134

Main symptoms

Diarrhea

Watery, 390–1230 g/d

Watery, > 10 /d

Watery, 3–5/d

Watery, > 10/d

Vomiting

0–3/d

No

No

Yes

Abdominal distention

Yes

No

PMA 24 weeks-4 days after birth

Yes

Laboratory examination (blood)

Age at examination

23 months

17 days

3 months

42 days

C-reactive protein (mg/L)

 < 8

8

 < 8

 < 8

WBC (*10^9/L)

10.68

23

8.3

21.92

ALT (U/L)

46

25

39

120

Albumin (g/L)

42.3

33.4

40.5

37.6

pH

7.35

7.29

7.59

7.14

Chloride (mmol/L)

97

113

64

131

Potassium (mmol/L)

4.4

3.4

2.63

2

Sodium (mmol/L)

136

137

127.5

142

Base excess (mmol/L)

0.2

 − 15.3

24.6

–21.8

Complications

Sepsis

7 Episodes in 1 year

1 Episode in 2 months

No

Yes

Vitamin D deficiency

Yes

ND

No

ND

Liver dysfunction

Yes

Yes

No

Yes

Seizure

Once

No

No

Recurrent

Failure to thrive

Yes

Yes

Within 3 months

Yes

Enteral nutrition

Routes

Nasogastric/nasojejunal tube

Per os

Nasogastric tube

Nasogastric tube

Formula

Peptide-based formula

AAF, eHF

eHF

AAF, eHF

Surgery

 

1st: Ileostomy;

2nd: Bishop Koop ileostomy;

3rd: stoma closure

No

Resection of 10 cm ileum, ileocecus and 1 cm colon; Bishop Koop ileostomy

No

PN weaned

 

No

No

Yes

No

Diagnosis for diarrhea

 

CTE

CTE

CCD

MVID

Follow-up

 

Died of blood transfusion reaction at 3.5 years of age

The child’s body weight was 3.3 kg on his first birthday

The child’s body weight was 8.5 kg with nasogastric feeding and supplementation with 8 ml/day 10% KCl at 8 months

Died after discharge

  1. EN enteral nutrition, PN parenteral nutrition, eHF extensively hydrolyzed formula, AAF amino acid-based formula, PMA postmenopausal age, CTE congenital tufting enteropathy, MVID microvillus inclusion disease, CCD congenital chloride diarrhea, ND no data