Steroid sensitive gene 1

Cells of the zona fasciculata and zona reticularis lack aldosterone synthase (CYP11B2) that converts corticosterone to aldosterone, and thus these tissues produce only the weak mineralocorticoid corticosterone. However, both these zones do contain the CYP17A1 missing in zona glomerulosa and thus produce the major glucocorticoid, cortisol. Zona fasciculata and zona reticularis cells also contain CYP17A1, whose 17,20-lyase activity is responsible for producing the androgens, dehydroepiandosterone (DHEA) and androstenedione. Thus, fasciculata and reticularis cells can make corticosteroids and the adrenal androgens, but not aldosterone.

Two hundred and sixteen NS children (boys 165, median age of onset 5 years, range 1–16 years) and 216 age- and gender-matched healthy children (boys 155, median age 6 years, range 1–16 years) were included in the study. Of the children with NS, 137 (%) had SSNS and 79 (%) patients had SRNS. The mean age of onset was higher for SRNS ( ± years) than for SSNS ( ± years) (P < ) patients. The biochemical profiles and estimated glomerular filtration rate (GFR) of patients with SSNS and patients with SRNS are summarized in Table 2 . The GFR was estimated by using Schwartz equation and constant as mentioned in a former study [ 19 ]. The mean level of serum creatinine was significantly higher in patients with SRNS than patients with SSNS. The serum protein level and ratio of spot urine protein to creatinine were higher in patients with SSNS than in patients with SRNS. The mean levels of hemoglobin, blood urea nitrogen and serum albumin between SSNS and SRNS patients were similar between SSNS and SRNS patients. Of the 79 SRNS patients, 41(%) had focal segmental glomerulosclerosis, 34 (43%) had minimal-change disease and 4 (%) were not biopsied because the parents had not given consent for kidney biopsy.

In our previous study in 2011 we found a significant increase in MDR1 gene expression on lymphocytes in pediatric patients with NS in comparison with the control group both in disease activity an remission These markers were also significantly higher in activity than in remission. MDR1 gene expression was significantly elevated in SRNS patients (particularly relapse cases) than steroid sensitive NS (SSNS) patients whether in activity or in remission (7), And in a complementary study under publication we found that Homozygous mutants TT and T allele of C3435T were significantly higher in patients with NS than controls, Additionally MDR1 TT and TA genotypes of G2677T/A were significantly more frequent in patients with NS compared to controls. On the contrary, no significant difference was observed in genotypes and allele for C1236T between patients with NS and controls. However, when considering MDR1 G2677T/A steroid resistant patients had significantly higher frequency of GA, GT + GA and TT + AA genotypes when compared with steroid responsive patients. Another finding was that patients younger than 6 years old had significantly higher frequency of MDR1 C3435T genotypes and alleles and MDR1 G2677T/A genotypes and alleles; and that finding matches Jafar et al. (8) who found that steroid resistant patients had significantly higher frequency of GA, GT + GA and TT + AA genotypes when compared with steroid responsive patients. So we hypothesized that this changes in MDR-1` gene polymorphisms may be also affected by pathological type in SRNS and to prove this we studied this polymorphism in two different pathologies FSGS versus mesangioproliferative glomerulonepheritis.

Mutations in the UGT1A1 gene are responsible for both type I and type II Crigler-Najjar syndromes ( 218800 , 606785 ) as well as for the more common mild hyperbilirubinemia known as Gilbert syndrome ( 143500 ) ( Kadakol et al., 2000 ). Patients with type I do not respond to phenobarbital treatment and only traces of bilirubin glucuronides can be found in their bile. Both Crigler-Najjar syndrome type II and Gilbert syndrome patients have reduced bilirubin transferase activity and are responsive to phenobarbital administration. Mutations in UGT1A1 are also responsible for some cases of breastfeeding jaundice ( 237900 ), which may be an infantile and inducible phenotype of Gilbert syndrome ( Maruo et al., 2000 ).

Steroid sensitive gene 1

steroid sensitive gene 1

Mutations in the UGT1A1 gene are responsible for both type I and type II Crigler-Najjar syndromes ( 218800 , 606785 ) as well as for the more common mild hyperbilirubinemia known as Gilbert syndrome ( 143500 ) ( Kadakol et al., 2000 ). Patients with type I do not respond to phenobarbital treatment and only traces of bilirubin glucuronides can be found in their bile. Both Crigler-Najjar syndrome type II and Gilbert syndrome patients have reduced bilirubin transferase activity and are responsive to phenobarbital administration. Mutations in UGT1A1 are also responsible for some cases of breastfeeding jaundice ( 237900 ), which may be an infantile and inducible phenotype of Gilbert syndrome ( Maruo et al., 2000 ).

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