Skip to main content

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