FM JANUARY 2019 - digital edition

case reports
WHAT IT MEANS TO HAVE
CYSTIC FIBROSIS
An inherited autosomal recessive disorder, CF has few treatment options
Gurvinder Kaur and Devender Singh gave birth to
a normal 3.5 kg baby boy, Angad Singh, on 2 Nov
2011 in Raipur. While everything was normal at birth,
Angad Singh did not pass stools in the 24-48-hour window
as expected. Angad’s abdomen was soon distended and
he started vomiting green colored fluids. Based on these
symptoms, Angad was thought to have Hirschsprung’s
disease and he was referred to a paediatric surgeon who
performed a colostomy and biopsy of the intestine. After the
surgery, Angad now had a problem of loose stools and within
2 months of age, he had lost considerable weight and was
at 1.8 kgs. He was then presented to Dr K. N. Shah, a senior
consulting paediatrician at Lilavati Hospital and Research
Centre, Mumbai.
At Lilavati, Angad underwent another biopsy, which
turned out to be normal, and Hirschsprung’s disease was
ruled out. Based on his history and the normal biopsy
results, Dr Shah suspected that the child had meconium
ileus, which is a bowel obstruction due to
a sticky meconium in the intestine. The
symptoms for meconium ileus are similar to
that of Hirschsprung’s disease – distended
abdomen, green vomit and no stools.
Meconium ileus is most often associated
with cystic fibrosis, and Gurvinder Kaur was
counselled to have Angad undergo genetic
testing to confirm the case.
ABERRANT CFTR RESULTS IN
AN ION MISBALANCE WHICH
CAUSES THE FORMATION OF A
THICK AND VISCOUS MUCOUS.
SUCH MUCOUS CAN AFFECT
THE FUNCTIONING OF THE
PANCREAS AND LIVER, CAUSING
DIGESTIVE SYMPTOMS
Cystic fibrosis is an inherited autosomal
recessive disorder caused due to a
homozygous mutation in the gene for the
cystic fibrosis transmembrane conductance
regulator (CFTR). The most common gene
mutation is the deletion mutation, ΔF508,
which results in a non-functional CFTR
protein. CFTR is a chloride ion channel
required for creating sweat, digestive juices
and mucous. Aberrant CFTR results in an ion
misbalance which causes the formation of a
thick and viscous mucous. Such mucous can
affect the functioning of the pancreas and
liver, causing digestive symptoms, or allow
bacteria to hide from the immune system
in the lungs, causing repeated respiratory
infections. People with cystic fibrosis also
40 / FUTURE MEDICINE / JANUARY 2019