Biochemical Diagnosis of a Fatal Case of Günther’s Disease in a Newborn with Hydrops Foetalis
| Autor: | L. Verstraeten, N. Van Regemorter, A. Pardou, H. de Verneuil, V. Da Silva, F. Rodesch, D. Vermeylen, C. Donner, J. C. Noël, Y. Nordmann, A. Hassoun |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
Male
medicine.medical_specialty Erythrocytes Porphyrins Hydrops Fetalis Porphyria Erythropoietic education Clinical Biochemistry Hepatosplenomegaly Physiology Infant Premature Diseases Urine Feces chemistry.chemical_compound Hydrops fetalis Internal medicine Porphobilinogen Humans Medicine Lymphocytes Acidosis Respiratory distress business.industry Biochemistry (medical) Infant Newborn Aminolevulinic Acid General Medicine medicine.disease Endocrinology chemistry In utero Mutation medicine.symptom business |
| Zdroj: | Clinical Chemistry and Laboratory Medicine. 31 |
| ISSN: | 1437-4331 1434-6621 |
| DOI: | 10.1515/cclm.1993.31.3.121 |
| Popis: | The birth of a male baby was induced at 32 weeks. In utero, the child presented, inter alia, signs of hydrops, hepatosplenomegaly and anaemia. Two in utero transfusions for correction of the anaemia were performed at 28 and 29 weeks, respectively. The baby rapidly presented respiratory distress with mixed acidosis. Three hours after birth, pink urine was excreted. Signs of icterus necessitated phototherapy, after which photosensitivity occurred. Erythrocytes were fluorescent under long-wavelength UV light. The baby died 24 hours after birth, displaying severe acidosis, a diffuse haemorrhagic syndrome, and repeated brady-cardia which did not respond to isoprenaline. The analysis of porphyrins in urine, blood and faeces of the baby gave the following results: 1) uroporphyrin (I and III isomeric series) was increased in urine and faeces, with traces in erythrocytes and plasma; 2) heptacarboxyporphyrin I was found mainly in urine and much less in erythrocytes, plasma and faeces; 3) coproporphyrin I was increased in urine, erythrocytes, plasma and faeces, and 4) 5-aminolaevulinic acid and porphobilinogen in urine and plasma were within the reference ranges. Determination of the enzymes of haem biosynthesis in erythrocytes and lymphocytes showed that both parents possessed only 50% of the normal activity of cosynthase. A previously described point mutation in codon 73 was observed in one parent. Fatal cases of neonatal Günther's disease are extremely rare and such an observation, according to our knowledge, is probably one of the first described. |
| Databáze: | OpenAIRE |
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