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Biochemical Diagnosis of a Fatal Case of Günther’s Disease in a Newborn with Hydrops Foetalis
- Source :
- Clinical Chemistry and Laboratory Medicine. 31
- Publication Year :
- 1993
- Publisher :
- Walter de Gruyter GmbH, 1993.
-
Abstract
- 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.
- Subjects :
- 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
Subjects
Details
- ISSN :
- 14374331 and 14346621
- Volume :
- 31
- Database :
- OpenAIRE
- Journal :
- Clinical Chemistry and Laboratory Medicine
- Accession number :
- edsair.doi.dedup.....9f7665de1e772d0d8f941bae9c476130