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Page 46
alliedacademies
August 16-17, 2018 | Paris, France
Primary Healthcare
12th International Conference on International Conference and Medicare Expo on
&
Pediatrics Health Care
Joint Event
Journal of Current Pediatric Research | Volume: 22
The syndrome consisting of Interstitial lung disease,
Nephrotic syndrome and Epidermolysis bulllosa is
considered to be associated with Integrin α3 (ITGA3) gene
mutations. To date only six patients are reported: all carried
homozygous ITGA3 mutations and presented a dramatically
severe phenotype leading to death before age 2 years,
from multi-organ failure due to interstitial lung disease &
congenital nephrotic syndrome.
A 9-year-old female child second born of third degree
consanguinuous marriage presented with complaints of
breathlessness, cough and cold intermittent in nature
for the past 6 months. The child was apparently normal
until 1 year of age.History elicited revealed uneventful
antenatal period, ATT undertaken on positive mantoux with
development of skin lesions, passing of foamy, frothy urine
& teary eyes for the past 5 years. On examination, retarded
growth in terms of height & weight with normal mental age
and skin lesions along with periorbital edema were noted.
Investigations revealed Pulmonary fibrosis suggestive of
Interstitial lung disease, Massive proteinuria indicative of
Nephrotic syndrome, Grade III Renal parenchymal disease,
Epidermolysis bullosa dystrophica. Genetic testing revealed
ITGA 3 mutations and a diagnosis of ILNEB Syndrome was
reached from the same.
The Patient was administered supportive treatment with
necessary antibiotics and other drugs and advised of danger
signs and symptoms such as elevated breathlessness,
oliguria, renal failure and worsening of general condition.
The patient and her family were counselled under the
guidance of a qualified psychiatrist and geneticist.
We describe a variant of the extremely rare ILNEB Syndrome
carrying unreported missense mutations in the ITGA3 gene,
which is responsible for Interstitial Lung disease, congenital
Nephrotic syndrome and Epidermolysis Bullosa (ILNEB). Our
case is all the more unique in that, of the six ILNEB patients
so far reported, who all died within the age of 19 months
frommulti-organ failure; our case overcame childhood and is
now 9 years old and manifests a mild clinical phenotype due
to the lack of homozygous mutations as seen in the other
cases.
e:
ILNEB Syndrome
S Prashanth and Srinivasan
The Tamil Nadu M.G.R. Medical University, India
Pediatrics & Primary HealthCare 2018, Volume 22
DOI: 10.4066/0971-9032-C1-003