SMARCAL1 mutations: A cause of prepubertal idiopathic steroid-resistant nephrotic syndrome
Vyšlo v časopise:
Čes-slov Pediat 2009; 64 (2): 82.
M, Franke D, Zenker M, Hoyer J, Lücke T, Pape L, Ehrich JH.
mutations: A cause of prepubertal idiopathic steroid-resistant
of Pediatric Kidney [M. Z., D. F., T. L., L. P., J. H.
H. E.], Hannover Medical School, D-30623 Hannover, Germany; Institute
of Human Genetics [M. Z., J. H.], Friedrich-Alexander University
Erlangen-Nuremberg, D-91054 Erlangen, Germany
Schimke immuno-osseous dysplasia (SIOD) is a rare
autosomal-recessive multisystem disorder with disproportionate growth
failure, impaired T-cell function, and steroid-resistant nephrotic
syndrome. Recently, we presented the typical anthropometric features
of SIOD. We now present data on two siblings who were initially
classified as suffering from familial steroid-resistant nephrotic
syndrome of unknown genetic origin. Apart from growth failure, no
syndrome-specific symptoms were found until the age of 10 years.
However, serial anthropometric examinations showed the development of
a SIOD-like pattern with a decreased ratio of trunk to leg
length in early adolescence. The growth pattern was significantly
different from that seen in children with chronic renal failure of
other origins. Initially the siblings had proportionate short stature
but developed disproportion only during adolescence. Molecular
genetic analysis revealed compound heterozygosity for a known
and a new mutation in the SMARCAL1 gene.
Conclusion: The disease spectrum associated with
SMARCAL1 mutations includes previously undescribed milder phenotypes
that may be clinically overlooked, particularly before puberty.
Serial anthropometric assessment can eventually identify patients
with a growth pattern similar to that of SIOD. These patients
should be tested for SMARCAL1 mutations to avoid overtreatment with
(Pediatr. Res. 2008; Dec 24. Epub ahead of print.)
Praktické lékařství pro děti a dorost