Congenital Chloride Diarrhea

Dr Prakash. I

The patient

b/o ABC

29 ys,P2+1, 33 wks., booked, local lady

ANSS

severe polyhydramnious, dilated bowel loops with ? Dudeno-jejunal atresia, AFI-36.7

HBsAg, HIV-Neg, Rubella- Immune

Previous sibling Congenital Chloride Diarrhea

h/o previous sibling

36 weeks, AGA

ANSS: polyhydramnious, dilated bowel loops

D1: Passed large watery stool

NICU (LH): 45 days

Paed gastroenterology consulted (GOS Hosp/DH)

Admitted in UK twice (for evaluation)

Previous sibling….

Impression of Paed gastroenterologist (UK)

Confirmed diagnosis of CCD

Advised-Genetic testing for the gene associated with CCD (SLC26A3/6)

Endoscopy showed: lymphonodular hyperplasia in the colon, mild increase in eosinophil density

Advice in UK (previous sibling….)

Electrolyte supplementation

Oral butyrate to be considered

f/u 4 times a year

Review by nephrologist

Monitor blood gas, electrolytes, growth, creatinine and urine chloride

Clinical genetic referral

The patient

Emergency LSCS, Indi: placental abruption

Apgar score: 6-1’ & 8-5’

Cried immediately →developed apnea. PPV given and intubated, Improved clinical status

Baby passed large volume watery stool (yellow fluid)

Growth parameters, vitals -normal

On examination

Chest: good bilateral air entry with secretions

CVS :S1 S2 normal, no murmur

Abdomen: soft, distended with visible bowel loops. Liver-3 cm

Normal external female genitalia

CNS : normal tone, power & reflex, pupillary light reflex normal

In NICU

Respiratory support (invasive/non invasive): 8 days

Chest and abdomen X ray: No signs of GI atresia

Serum chloride: normal since birth except on few occasions

AUSS, BUSS: Normal

IV antibiotics, Septic screening negative

Paed surgery:

Normal findings

Nil advise

Paed endocrinology:

False positive 17-OHP(neonatal screening)

Repeat serum 17-OHP- normal

Paed gastro advice

To do stool Cl, Na, K (diagnostic), CBG, pH stool, urinarysodium, serum renin and aldosterone

Hydration and correct electrolyte imbalance

Na and K supplementation

Check electrolytes daily

Calorie intake-150 cal/kg/day (according to tolerance)

Success of treatment means: weight gain, stabilizeserum Na, K, Cl, and improve the alkalosis

Investigations

Karyotype: 46 XX(Normal)

Aldosterone-N, Renin-↑

LFT, Serum osmolality-normal

Urine pH, osmolality, specific gravity, Na, Cl (random): Normal

Urine culture-sterile

Urine reducing substance-negative

Stool

Sodium: 5 mmol/ random (0.5-12.5)

Potassium: 6.2 mmol/ random(3.1-19.5)

Chloride:4.4+(random)(0.5-3.0)

CT-Pro vasopressin (co-peptin) 5.20 pmol/L

Abroad

Feeds

Started on oral feeds (EBM) on day 5 of life

Intermittently large watery stool (7 to 8 X) + abdominal distension

Feed volume adjusted

Full calories was given

EBM → LBW milk, stool consistency improved

Discharged on LBW milk

At the time of discharge

Wt:2.965kg, HC:32.7cm

General exam- normal

Abdomen: distended but soft

On full oral feeds ,tolerating, passing urine and formed stool

S.Na:134mmol/L,K:3.6mmol/L,Cl:100mmol/L

Discharge medications/plan

Oral sodium

Oral potassium

Paed gastroenterology F/U in DH after 2/52