Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033687 (proteinuria)
 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The HELLP-Syndrom (hemolysis, elevated liver enzymes, low platelet count) is considered as a severe complication of eclampsia with unpredictable development of pregnancy including high maternal and fetal risk. The result of retrospective analysis of all deliveries of the years 1986-1991 at the UFK Marburg were 28 cases of proved HELLP-Syndrom. Medical history, correlation of clinical and laboratory findings as well as the development of the disease and the neonatal dates were evaluated by computerized documentation. The incidence of HELLP-Syndrom was 28 of 8111 deliveries at all (0,34%). 82% of the women with HELLP-Syndrom were primiparae. The leading symptom was right upper abdominal pain in 75%, which lasted already 5,7 days before presentation in the clinic. Hypertonus, edema and proteinuria were present in 71%, 61% and 89% of the cases. The diagnosis indicating laboratory finding was the thrombocytopenia (mean 62 G/l). In comparison to the thrombocytes, which were at the 4.-7. day pp in 89% within the normal range, the liver function tests normalized just between the 9. and 13. day pp (SGOT 89%, SGPT 77%). The shortening of the prepartal hospitalization from 6 days in 1986/87 to 8 hours in 1990/91 decreases the periand postnatal complication rate from 43% to 23%. 26/28 patients (92%) were delivered by caesarean section from healthy babies through which were 75% premature infants and in 27% of the cases small for gestational age additionally. We conclude that the decrease of the diagnosis-delivery interval and the intensive medical care are responsible for the diminution of the maternal and neonatal mortality rate to 0%.
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PMID:[Clinical and chemical laboratory course of HELLP syndrome--a retrospective analysis]. 896 82

The oculo-cerebro-renal syndrome of Lowe is a rare X-linked disorder, caused by the inositol biphosphate 5-phosphatase deficiency, localized to the Golgi complex. Several mutations were reported in patient's OCRL gene leading to enzyme deficiency. We report a Moroccan case of OCRL syndrome of Lowe with a neo mutation in exon 10. The patient aged of 19 months was referred to our medical centre because of a psychomotor retardation. He had a medical history of eye abnormalities including cataract and bilateral glaucoma, diagnosed when he was 5 weeks old. Cataract has been treated after chirurgical therapy but ocular hypertonia persisted. Physical examination revealed an axial hypotonia and walking difficulties. Laboratory tests revealed a moderate acidosis (20 mmol/L), a slight decrease of serum phosphate level (24 mg/L) and an increased serum phosphatase activity. Further studies showed mild proteinuria, urinary bicarbonates loosing and generalised hyperaminoaciduria. Based on both clinical and biological data, Lowe syndrome has been suggested. In this context, molecular investigation has been performed using dHPLC/sequencing techniques which allow identifying an original mutation c.776T>C (p.Phe259Ser), localized on the exon 10 of the OCRL gene. The mutation was not found in the probant's mother suggesting a neo mutation. Lowe syndrome is a rare hereditary X-linked disorder resulting from a variety of heterogeneous mutations of OCRL gene. Indeed, numerous mutations have been reported, variations were noted concerning their localization as well as their type. To our knowledge, this is the first report of the neo mutation c.776T>C of OCRL gene and the first published case report of the Lowe syndrome in a Moroccan patient.
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PMID:[Oculo-cerebro-renal Lowe syndrome: clinical, biochemical and molecular studies in a Moroccan patient]. 1642 Sep 90