Congenital chloride

diarrhea
:Supervised by
Dr. Esam Hindawi
:Presented by
Dr. Muna Azzam
 Case presentation
Remas is a six months old female patient
:presented with the following problems
prematurity(28 wks)
LBW(1.3Kg)
NICU admission( 42 days)
On ventilator( 2 WKS)
Antenatal history of polyhydraminous
:AT AGE ( 4, 6) months
: Recurrent ER visits & hosp. due to
Large volume watery diarrhea
Vomiting
Abdominal distention
Hypok- metabolic alkalosis
Failure to thrive
:Feeding HX
Different formulas( S26, similac, pregestamil)
:Developmental HX
Delayed
:Family HX
:By PE
V/S: stable
G/P: below 5%
Chest: GAEB
Abdomin: distended, no organomegaly

:First impression
Bartter
CF
CCD
 Labs data
CBC: Anemia
electrolytes: Cl (77)mmol/L
K (2.5)mmol/L
VBG: PH (7.6)
Hco3 (34)
PCo2 (25)
spot urine (Cl) 11mmol/L
CF by PCR( -ve for 36 mutations)
Sweat Cl( 43)
Stool PH: 6
Stool study
Stool for RS: -ve
Sudan3: -ve
Cl in the stool: 130 mmol/L
Na in the stool: 5 mmol/L
K in the stool: 36 mmol/L
less than ( Cl) )Na + K (
:Pending results
Rennin, aldosterone
 Case discussion
.Our patient was a case of intractable watery diarrhea with metabolic alkalosis

There are a few disorders characterized by intractable diarrhea in infancy, such as

congenital glucose-galactose malabsorption and congenital sodium diarrhea. The former
,presents with metabolic acidosis, and acidic stool containing sugar
and the latter has metabolic acidosis, and normal or slightly alkalotic stool

These laboratory findings were contrary to our

patient, who had hyponatremia, metabolic
.alkalosis and acidic stool

Metabolic alkalosis could present in

,Bartter syndrome, characterized by hypokalemic hypochloremic alkalosis. Although
patients present during infancy, they do not experience intractable persistent watery
diarrhea as CCD

One of the other causes of metabolic alkalosis is cystic fibrosis. Sweat

.test and steatorrhea were negative in our patient
 Case conclusion
Remas was 6-months old girl who is the first born to
consanguinous parent with antenatal history of
polyhydramnious was born prematurely (birth
weight: 1300g) . admitted
for intractable diarrhea & diagnosed as CCD based on
clinical presentation & high fecal chloride
.concentration
 Hospital course
After correction of the hydration status by
Adequate intravenous replacement( KCl, NaCl)
Her acid-base & electrolytes improved
:The Pt was discharged on
KCl ( 5 ml) daily
NaCl 5%( 20 ml) daily
Omeprazole
 Follow up
in the clinic
Adjustment the doses according to
VBG
KFT
Urine chloride
Rennin. Aldosterone
Follow up the hydration & nutritional states
Follow up the Growth parameters
 Congenital chloride diarrhea
Its a genetic disorder due to AR mutation on
chromosome (7) that encode intestinal transport
protein (Cl/HCO3) resulting in large wastage of
.water & electorytes especially chloride
 The phathognomonic features
Intractable watery diarrhea
Metabolic alkalosis
High chloride concentration in the stool( more than
90 mmol/L)

:Incidence
Its a rare disorder
One of the The highest documented incidence in
the world was 1 -30 000 in( Finland)_ Poland.
Saudi Arabia, Kuwait
 Clinical symptoms
:Antenatal manifestations
Fetal diarrhea
Polyhydramnios
)This suggests that diarrhea begins in utero (
Length of gestation( prematurity)
Lack of meconium
 Neonatal manifestations
Intractable watery diarrhea
Dehydration
Electrolytes & acid base imbalance
Abdominal distention
Prolonged neonatal jaundice
Hypotonia & lethargy
Failure to thrive
Lumen
-Hco3 +H
Apical

SLC26A3 NHE3

cl
+Na

+2K

ATP

Basolat
membrane

CL

+3Na
Watery stool from an infant with congenital chloride-losing
. .diarrhea
Infant with severe abdominal distention resulting from
.congenital chloride-losing diarrhea
 Diagnosis
Diagnosis In the newborn is established when
there is hydramnios and watery diarrhea in
which the faecal concentration of Cl- exceeds 90
mmol/l. A stool sample is easily obtained from
.the rectum with a soft catheter
,After the neonatal period hypokalaemia
hypochloremia, and metabolic alkalosis are
.common but not inevitable

There is a history of prematurity and hydramnios.

The final diagnostic criteria is the high fecal
.-concentration of Cl

However, in severely and chronically dehydrated

and hypoelectrolytemic infants this concentration
was as low as 40 mmol/l. It (again) always
exceeded 90 mmol/l once the dehydration and
.hypochloremia had been corrected
 Treatment
The main goal in the treatment CCD is to maintain electrolytes
.& acid base balance by lifelong salt substitution

Replacement therapy must be started immediately

The daily Cl replacement(approximately 8 mmol /kg in infant &
around 4 mmol/Kg in older children (1-2 mmol as KCI and
the rest as NaCl
These amounts are then adjusted for weight and serum
.electrolyte concentrations

.Renal injury is the major complication of inadequate therapy

.With age Pt can cope with diarrhea by consuming salty diet

 Treatment
Regarding therapies for the diarrhea itself is still
unclear
NSAIDs
Cholestyramine
Omeprazole
We follow up the Pt by
Urine Cl
R.A.A
V.B.G
KFT
GP
 Long term prognosis
Early diagnosis & aggressive salt therapy
has favorable prognosis
:Complications
Renal damage
Infection
Soiling
Delayed milestones
 Extraintestinal problems
Subfertility
HTN
Hyperurecemia
Inguinal hernia
spermatocele
 keypoints
Its recommended to have CCD in mind as
the leading cause of any severe resistant
diarrhea in infancy to prevent its
.irreversible &longterm organ changes