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Senior Resident, Sai Child Care Clinic and Pediatric Multispecialty Hospital, New Panvel, Navi Mumbai, Maharashtra, India
Director of Sai Child Care Clinic and Pediatric Multispecialty Hospital, Hon. Pediatric Intensivist at BJ. Wadia Children Hospital Mumbai,
Maharashtra, India
3
Pediatric Nephrologist PD Hinduja Hospital, Sai Child Care Clinic, Mumbai, Maharashtra, India
INTRODUCTION
syndrome
with
metabolic
acidosis,
CASE PRESENTATION
A 2 year girl presented with history of failure to
thrive and polyuria since 9 month of age. She had
grown well prior to that. She was born at term,
normal vaginal delivery, birth weight 2.7kg, length
47cm and head circumference 34cm. Her initial
physical milestones were normal but she never
walked and language was appropriate for age.
Presenting at 2 years of age her weight was 5.9kg,
height 68cm and head circumference 44 cm. Blood
pressures was normal. She had severe polyuria
(urine output more than 6 ml/kg/hr). Venous blood
gas showed a pH of 7.48 with the HCO3 value of
Bartters
syndrome.
However
the
possibilities
were
kept
in
mind
and
International Journal of Recent of Surgical and Medical Science | Jul-Dec 2015 | Vol 1 | Issue 1 |
The Society for Medicine & Surgical Update (SMSU)
www.ijrsms.com
Case
International Journal of Recent Surgical & Medical Science (IJRSMS)
Report
ISSN: 2455-0949
with
severe
hyponatremia
(107meq/lit),
hypochloremia
persisted
revealed
hypokalemia
(2.1meq/lit)
and
and
investigations
also
cystinosis.
DISCUSSION
is
an
autosomal
recessive
stored
cystine
is
poorly
soluble
and
to
thrive
but
had
hypokalemia,
International Journal of Recent of Surgical and Medical Science | Jul-Dec 2015 | Vol 1 | Issue 1 |
The Society for Medicine & Surgical Update (SMSU)
www.ijrsms.com
Case
International Journal of Recent Surgical & Medical Science (IJRSMS)
Report
ISSN: 2455-0949
used to reduce deposits in the cornea.
6.
CONCLUSION
7.
other
hand,
Bartters
syndrome
has
presenting
with
findings
of
Bartters
Cystinosis
many
REFERENCES
1.
2.
cystinosis.
Pediatric
Nephrol.
2003;18:20715.
1985;24:44751. [PubMed]
12.
2004;4:36179. [PubMed]
treated
acetylsalicylic
5.
4.
[PubMed]
with
acid
prolonged
therapy.
diet
therapy
Minerva
and
Pediatr.
15.
1978;30:182531. [PubMed]
Bartter
9.[PubMed]
syndrome.
PediatrNephrol.2005;20:217
[PubMed]
How to cite this article Hantodkar K, Mohite M, Deshpande P, A rare presentation of Cystinosis,
IJRSMS, 2015;01(1): 2-4
International Journal of Recent of Surgical and Medical Science | Jul-Dec 2015 | Vol 1 | Issue 1 |
The Society for Medicine & Surgical Update (SMSU)
www.ijrsms.com