Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome.
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.


CONCLUSIONS
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.
Mark
Karlheinz
K
Department of Obstetrics and Prenatal Medicine, Klinikum Weiden, Germany. mark.weiden@t-online.de
Reis
André
A
Zenker
Martin
M
D000015:Abnormalities, Multiple; D000757:Anencephaly / Q000000981:diagnostic imaging / Q000235:genetics; D003241:Consanguinity; D005124:Eye Abnormalities / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005920:Glomerular Mesangium / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D007223:Infant; D034921:Lamin Type B / Q000235:genetics*; D008297:Male; D009154:Mutation; D009404:Nephrotic Syndrome / Q000151:congenital* / Q000000981:diagnostic imaging; D010375:Pedigree; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal
D034921:Lamin Type B