A Case of Partial Trisomy 9p Syndrome with 3-Ketothiolase Deficiency

Trisomy 9p syndrome was first described by Rethore et al in 1970 and about 150 cases have been reported. The characteristic features of the partial trisomy 9p syndrome is clearly recognizable faces, which include microcephaly, facial deformities, skeletal and dermatoglyphic anomalies with variable degrees of mental retardation. The 3-ketothiolase deficiency was first described in 1971 and about 30 cases have been reported. The 3-ketothiolase deficeiency is an inborn error of isoleucine and ketone body catabolism that shows autosomal recessive traits, caused by a deficiency of mitochondrial acetoacetyl-coenzyme A thiolase(T2). We report a case of partial trisomy 9p syndrome with 3-ketothiolase deficeiency in a 4-years-old female. The karyotype of the patient was confirmed as 46,XY, add(9)(p23) mat. In the urine organic acid test, 3-ketothiolase deficiency was reported.

The Relationship Between Interleukin 1beta Gene Polymorphism and Renal Involvement in Henoch-Schonlein Purpura

PURPOSE: High interleukin-1 beta(IL-1beta) expression in the skin biopsy specimens of patients with Henoch-Schonlein Purpura(HSP) has been observed. We examined IL-1beta gene polymorphism in patients with HSP. The purpose of this study is to examine the relationship between IL-1beta gene polymorphism and renal involvement in HSP. METHODS: Patients from mideast Korea with HSP were studied. All patients had at least 6 months of follow up. Patients and ethnically matched controls were genotyped for IL-1beta gene polymorphism by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: Thirty-four patients(all younger than 15 years old) who had been diagnosed with HSP and 27 controls were examined. No allele or genotype differences between the HSP and control groups were observed. No significant association between the carriage of IL-1beta(-511) T allele and renal involvement(P=0.525, OR:1.417, CI:0.545-3.686) was found. CONCLUSION: In unselected patients with HSP, carriage of IL-1beta(-511) T allele does not appear to influence renal involvement.