| Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome. | |
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MedLine Citation:
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PMID: 16450351 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To describe the prenatal findings in Pierson syndrome, a newly defined autosomal recessive entity, comprising congenital nephrotic syndrome (CNS) with diffuse mesangial sclerosis and distinct eye abnormalities due to LAMB2 mutations. METHODS: Serial prenatal ultrasound examinations were performed in four consecutive pregnancies affected by Pierson syndrome in the same family. LAMB2 mutations were demonstrated in retrospect by direct sequencing of the gene in the newborn index patient and three abortuses. RESULTS: Fetal ultrasound consistently revealed marked renal hyperechogenicity associated with variable degree of pyelectasis. These features were detectable by 15 weeks of gestation in all fetuses. Hydrops fetalis due to severe hypalbuminemia demonstrated by chordocentesis occurred in one fetus. Placentas were significantly enlarged. Development of oligohydramnios indicated prenatal decline of renal excretory function. Anencephaly was detected in another fetus with molecularly proven Pierson syndrome at 12 weeks of gestation. CONCLUSION: We conclude that Pierson syndrome has to be considered in the differential diagnosis of nephrotic disorders with prenatal onset. Ultrasound criteria for differentiation from the most common type of CNS-congenital nephrosis of the Finnish type (CNF)-are discussed. Because of its prognostic relevance, we advocate molecular genetic testing of LAMB2 in any case of prenatally detected nephrotic syndrome with negative results of NPHS1 mutational screening, especially in the presence of the typical sonomorphologic findings of the kidneys and the development of oligohydramnios. |
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Authors:
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Karlheinz Mark; André Reis; Martin Zenker |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Prenatal diagnosis Volume: 26 ISSN: 0197-3851 ISO Abbreviation: Prenat. Diagn. Publication Date: 2006 Mar |
Date Detail:
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Created Date: 2006-03-06 Completed Date: 2006-08-03 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: England |
Other Details:
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Languages: eng Pagination: 262-6 Citation Subset: IM |
Copyright Information:
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2006 John Wiley & Sons, Ltd. |
Affiliation:
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Department of Obstetrics and Prenatal Medicine, Klinikum Weiden, Germany. mark.weiden@t-online.de |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple* Anencephaly / genetics, ultrasonography Consanguinity Eye Abnormalities / genetics* Fatal Outcome Female Fetal Death Fetal Diseases / diagnosis*, genetics Glomerular Mesangium / pathology, ultrasonography* Humans Infant Lamin Type B / genetics* Male Mutation Nephrotic Syndrome / congenital*, ultrasonography Pedigree Pregnancy Syndrome Ultrasonography, Prenatal* |
| Chemical | |
Reg. No./Substance:
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0/Lamin Type B; 0/lamin B2 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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