| Introduction: Inherited and acquired renal tubular
disorders including cystic Kidney disease, cystinosis,
Bartter’s syndrome, Liddle syndrome, Gordon
syndrome, nephrogenic diabetes insipidus, and druginduced
tubular injury are the frequent causes of end
stage renal disease (ESRD) in children manifesting with
chronic kidney disease (CKD). This is a report of the
etiology and incidence of tubulopathies in a cohort of
Iranian children across the country.
Materials and Methods: This descriptive
observational study was conducted from March 2013 to
October 2013. A list of tubulopathy disorders was
emailed to 70 members of the Iranian Society
of Pediatric Nephrology in different provinces of
Iran practicing in both university affiliated and nonaffiliated
hospitals. They were requested to report the
number of patients with specific International
Classification of Disease (ICD-10) codes admitted to
their hospitals between 2006 and 2013. Data are
presented as numbers and percentages.
Results: Of 31 participating centers, 23 completed and
returned the spreadsheets. Of the 2940 reported cases,
the three most frequent tubulopathies were renal
tubular acidosis (RTA) (33%), calcium
disorders (27%), and cystic diseases
(17%). Considering Tehran and Shiraz as referral
centers, RTA and cystinosis were mostly reported
from Kerman and Urmia, respectively. Furthermore,
idiopathic hypercalciuria, cystinuria, and hyperoxaluria
were the most common causes of hereditary dney
stone in 281 children reported from Bandarabas,
Tabriz, and Shiraz, respectively
Conclusions: Our findings regarding the high incidence
and different etiologies of inherited tubulopathies may
provide a basis for designing targeted therapeutic
interventions in the future and strategies for gene
therapy of these complex disorders. |