Schimke immuno-osseous dysplasia (SIOD) is a rare multisystem disorder with early mortality and steroid-resistant nephrotic syndrome (SRNS) progressing to end-stage kidney disease. We hypothesized that next-generation gene panel sequencing may unsurface oligosymptomatic cases of SIOD with potentially milder disease courses. We analyzed the renal and extrarenal phenotypic spectrum and genotype-phenotype associations in 34 patients from 28 families, the largest SMARCAL1-associated nephropathy cohort to date. In 11 patients the diagnosis was made unsuspectedly through SRNS gene panel testing. Renal disease first manifested at median age 4.5 yrs, with focal segmental glmerulosclerosis or minimal change nephropathy on biopsy and rapid progression to end-stage kidney disease (ESKD) at median age 8.7 yrs. Whereas patients diagnosed by phenotype more frequently developed severe extrarenal complications (cerebral ischemic events, septicemia) and were more likely to die before age 10 years than patients identified by SRNS-gene panel screening (88 vs. 40%), the subgroups did not differ with respect to age at proteinuria onset and progression to ESKD. Also, 10 of 11 children diagnosed unsuspectedly by Next Generation Sequencing were small at diagnosis and all showed progressive growth failure. Severe phenotypes were usually associated with biallelic truncating mutations and milder phenotypes with biallelic missense mutations. However, no genotype-phenotype correlation was observed for the renal disease course. In conclusion, while short stature is a reliable clue to SIOD in children with SRNS, other systemic features are highly variable. Our findings support routine SMARCAL1 testing also in non-syndromic SRNS.

• MeSH
• arterioskleróza diagnóza   genetika   patologie   MeSH
• dítě MeSH
• DNA-helikasy genetika   MeSH
• dospělí MeSH
• fenotyp MeSH
• genetické testování MeSH
• genotyp MeSH
• kohortové studie MeSH
• kojenec MeSH
• ledviny patologie   MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mutace MeSH
• nefrotický syndrom diagnóza   genetika   patologie   MeSH
• osteochondrodysplazie diagnóza   genetika   patologie   MeSH
• plicní embolie diagnóza   genetika   patologie   MeSH
• předškolní dítě MeSH
• syndromy imunologické nedostatečnosti diagnóza   genetika   patologie   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• předškolní dítě MeSH
• Publikační typ
• časopisecké články MeSH

It is believed that omentin is secreted by stromal cells of adipose tissue and modulates insulin sensitivity. Data from a few studies have shown lower serum omentin in obese children and higher in anorexia nervosa. However, to date, there is lack of research on serum omentin concentrations in adolescent patients in a wide range of body mass index (BMI) and insulin resistance. In this cross-sectional study omentin-1 serum concentrations were evaluated using commercially available ELISA kit in 47 Polish girls with restrictive anorexia nervosa (AN), 50 with simple obesity (OB) and 39 healthy controls (C). The mean serum omentin-1 concentration in girls with AN was statistically significantly higher than that of C and OB girls. Statistically significant (P<0.0001) negative correlations between the serum concentrations of omentin-1 and body weight (r=-0.73), BMI (r=-0.75), standard deviation score for body mass index (BMI-SDS) (r=-0.75), insulin (r=-0.81) and HOMA-IR index (r=-0.82) were seen in the entire examined population. We conclude, that omentin-1 is the nutritional marker reflecting body weight and insulin resistance. Our findings support the hypothesized role of omentin in maintenance of body weight and regulation of appetite and suggest the adaptation of its secretion to body weight and glucose metabolism.

• MeSH
• biologické markery krev   MeSH
• cytokiny krev   MeSH
• dítě MeSH
• GPI-vázané proteiny krev   MeSH
• lektiny krev   MeSH
• lidé MeSH
• mentální anorexie krev   diagnóza   MeSH
• mladiství MeSH
• obezita krev   diagnóza   MeSH
• průřezové studie MeSH
• tělesná hmotnost fyziologie   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH