Universität zu Köln

Erger, Florian ORCID: 0000-0002-2768-1702, Bruechle, Nadina Ortiz, Gembruch, Ulrich ORCID: 0000-0001-8284-4669 and Zerres, Klaus (2017). Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases. Arch. Gynecol. Obstet., 295 (4). S. 897 - 907. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-0711

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Abstract

Purpose To investigate the sonographic and clinical genotype-phenotype correlations in autosomal recessive polycystic kidney disease (ARPKD) and other cystic kidney diseases (CKD) in a large cohort of prenatally detected fetuses with hereditary CKD. Methods We retrospectively studied the clinical and diagnostic data of 398 patients referred with prenatal ultrasound findings suggestive of CKD between 1994 and 2010. Cases with confirmed hereditary CKD (n = 130) were analyzed as to their prenatal ultrasound findings, genotype, and possible predictors of clinical outcome. Results ARPKD was most common in our non-representative sample. Truncating PKHD1 mutations led to a significantly reduced neonatal prognosis, with two such mutations being invariably lethal. Sonographically visible kidney cysts occurred in only 3% of ARPKD cases. Renal abnormalities in Meckel syndrome (MKS) appeared earlier than in ADPKD (19.6 +/- 3.7 vs. 29.8 +/- 5.1 GW) or ARPKD (19.6 +/- 3.7 vs. 30.2 +/- 1.2 GW). Additional CNS malformations were not found in ARPKD, but were highly sensitive for MKS. Pulmonary hypoplasia, oligo/anhydramnios (OAH), and kidney enlargement were associated with a significantly worse neonatal prognosis. Conclusion Genotype, sonographic signs of OAH, enlarged kidney size, and pulmonary hypoplasia can be useful predictors of neonatal survival. We propose sonographic morphological criteria for ARPKD, ADPKD, MKS, and renal cyst and diabetes syndrome (RCAD). We further propose a clinical diagnostic algorithm for differentiating cystic kidney diseases.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Erger, Florian UNSPECIFIED orcid.org/0000-0002-2768-1702 UNSPECIFIED Bruechle, Nadina Ortiz UNSPECIFIED UNSPECIFIED UNSPECIFIED Gembruch, Ulrich UNSPECIFIED orcid.org/0000-0001-8284-4669 UNSPECIFIED Zerres, Klaus UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-235467
DOI:	10.1007/s00404-017-4336-6
Journal or Publication Title:	Arch. Gynecol. Obstet.
Volume:	295
Number:	4
Page Range:	S. 897 - 907
Date:	2017
Publisher:	SPRINGER HEIDELBERG
Place of Publication:	HEIDELBERG
ISSN:	1432-0711
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MECKEL-GRUBER-SYNDROME; HYPERECHOGENIC KIDNEYS; CLINICAL PICTURE; PKHD1 MUTATIONS; RENAL ORIGIN; IN-UTERO; DIAGNOSIS; ARPKD; OLIGOHYDRAMNIOS; ANHYDRAMNIOS Multiple languages Obstetrics & Gynecology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/23546