Utility of plasma fluorometric emission scanning for diagnosis of the first 2 cases reports of variegate porphyria: a very rare type of porphyrias in Thai.

Two Thai women who are siblings presented with a history of recurrent pruritic vesicles on dorsum of both hands and extensor surface of forearms where the sun-exposed areas are. The excoriated vesicles were healed with depressed scars. They had no previous history of intense abdominal pain, seizure, or psychiatric disorder Urinary porphyrins were analyzed by High Performance Liquid Chromatography (HPLC). The level of coproporphyrin III was detected to be higher than the uroporphyrin level. Fluorescence emission scanning of both patients' plasma was performed and demonstrated typical emission peak at 626 nm, that confirmed the diagnosis of variegate porphyria.

Porphyrias diagnosed types by HPLC analysis: 10 years of Siriraj experience.

Objective: This study aims to report the HPLC patterns of urine porphyrin intermediates from Thai patients with various types of porphyrias in supporting the clinical diagnosis. Methods: A reverse phase HPLC method using kit reagents, was used to measure porphyrin intermediates in the urine of control subjects and patients with various types of porphyrias. Results: 22 control subjects showed very low levels of all urine porphyrin intermediates whereas 11 porphyriatic patients had increases of some specific isomers varying among each type of the disease. The results from 6 porphyria cutanea tarda (PCT) patients: marked increase of uroporphyrin and slight increase of the other porphyrin intermediates, 2 congenital erythropoietic porphyria (CEP), high elevation of uroporphyrin and coproporphyrin I – III ratio with slight increase of pentaporphyrin, 2 variegate porphyria (VP), marked increase of only coproporphyrin III and 1 acute intermittent porphyria (AIP) (non acute form), high increase of coproporphyrinIII with mild increase of ALA, PBG, uroporphyrin, and coproporphyrin I. Conclusion: The HPLC could provide data essential for differentiating common types of porphyrias in Thai patients, PCT, CEP, VP and AIP. Clinical findings of the patients and urine screening test for increased porphyrins were also helpful for the definite diagnosis.

Comparative study of two screening tests for urinary porphyrins in the diagnosis of porphyrias.

Objective: To evaluate the efficiency of two urinary porphyrins screening tests: routine fluorescent detection and semi quantitative spectrophotometric scanning. Methods: Minimal-level detection was performed by adding standard coproporphyrin of 0, 25, 50, 100, 250 and 500 ตg/L in urine and then screened by the two methods. Urine samples from 39 controls, 7 patients with porphyrias and 20 patients with liver impairment were quantitated for total porphyrins, followed by a comparison of the two qualitative tests. Results: The fluorescent test detected the minimal porphyrin level at 250 ตg/L whereas spectrophotometric scanning could detect a lower level, at 100 ตg/L. Total control subjects showed negative results from both tests while all 7 patients with porphyrias and 6 out of 20 cases of liver impairment showed definite positive results. Conclusion: Urinary screening for porphyrins from both tests revealed the same accuracy from this study. Still, the spectrophotometric method which is simpler, more sensitive and easily interpretable seemed more practical as a screening test in general laboratories. Keywords: Screening test; Porphyrias; Urinary porphyrins

A girl with A glowing tooth : A case of congenital erythropoietic porphyria.

Congenital erythropoietic porphyria is a rare type of porphyria caused by inherited defects of uroporphyrinogen III synthase, an enzyme in the heme biosynthetic pathway. The resultant accumulation of porphyrins causes damage to the skin and erythrocytes, leading to cutaneous photosensitivity and hemolytic anemia. Furthermore, excess porphyrins are also deposited in tissues, bone, and teeth, resulting in a reddish-brown discoloration of the teeth (erythrodontia) which fluoresces under long-wavelength ultraviolet light. In this report, a case of a 9-month old infant girl with recurrent skin eruptions, anemia with hepatosplenomegaly, and erythrodontia is presented. The diagnosis of congenital erythropoietic porphyria was made based on the clinical manifestations and biochemical investigations. The patient was treated successfully with allogenic bone marrow transplantation and is still in remission after almost 3 years posttransplantation.

Establishment of OVS3 monoclonal antibody recognizing human ovarian cancer.

OVS3 monoclonal antibody (MAb) was established by fusing murine myeloma cell line NS 1/1-Ag 4-1 with spleen cells from mouse immunized with fresh ovarian endometrioid carcinoma. The MAb was selected by a specific immunohistological (streptavidin-biotin) staining on the tumor area of frozen sections of the same tumor. The immunohistological staining with OVS3 MAb was also screened on frozen sections of 21 normal tissues, 5 benign tumors, 20 ovarian cancers and 5 other cancers. The positive result was 50% in all ovarian cancers compared to almost negative results in the other groups (97% specificity). The heat labile property of OVS3 antigen (Ag) was found when hegative staining results were shown in all paraffin sections in spite of positive reactions on frozen sections of the same tumors. The OVS3 Ag was confirmed to be a 3-subunit protein of 40-50 kD molecular weight by the immunoprecipitation technique. The data supported OVS3 MAb as another new MAb recognizing an epitope different from the previously established OVS1 and OVS2 MAbs.

Evaluation of new ovarian cancer markers, STN, CA 546 and CA 72-4 in Thai patients.

Ovarian cancer is the most fatal gynaecologic malignance. At present, there is no sensitive test to detect early stages of the disease. In our study of 32 ovarian cancer patients admitted in Siriraj Hospital, 3 new tumor makers, STN, CA 546 and CA 72-4 were selected to evaluate for their sensitivity as compared with CA 125 Kit. The best positive rate for non-mucinous type of ovarian cancer was 82% obtained from the CA 125 test while the result for mucinous type was 67% obtained from a combined test of CA 125 and STN. As a requirement for early diagnosis, tests using CA 125 or CA 72-4 showed best sensitivity of 33% in early stages of non-mucinous, while CA 546 test revealed the highest result of 33% for mucinous type. Thus, the combination of new tumor marker assay of STN, CA 546, CA 72-4 together with CA 125 would increase sensitivity in detecting ovarian cancer especially for the mucinous type which is more common in Thailand.