Hackl, Agnes, Mehler, Katrin, Gottschalk, Ingo, Vierzig, Anne, Eydam, Marcus, Hauke, Jan, Beck, Bodo B., Liebau, Max C., Ensenauer, Regina, Weber, Lutz T. and Habbig, Sandra (2017). Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities. Pediatr. Nephrol., 32 (5). S. 791 - 801. NEW YORK: SPRINGER. ISSN 1432-198X

Full text not available from this repository.

Abstract

Differential diagnosis of prenatally detected hyperechogenic and enlarged kidneys can be challenging as there is a broad phenotypic overlap between several rare genetic and non-genetic disorders. Metabolic diseases are among the rarest underlying disorders, but they demand particular attention as their prognosis and postnatal management differ from those of other diseases. We report two cases of cystic, hyperechogenic and enlarged kidneys detected on prenatal ultrasound images, resulting in the suspected diagnosis of autosomal recessive polycystic kidney disease (ARPKD). Postnatal clinical course and work-up, however, revealed early, neonatal forms of disorders of fatty acid oxidation (DFAO) in both cases, namely, glutaric acidemia type II, based on identification of the novel, homozygous splice-site mutation c.1117-2A > G in the ETFDH gene, in one case and carnitine palmitoyltransferase II deficiency in the other case. Review of pre- and postnatal sonographic findings resulted in the identification of some important differences that might help to differentiate DFAO from ARPKD. In DFAO, kidneys are enlarged to a milder degree than in ARPKD, and the cysts are located ubiquitously, including also in the cortex and the subcapsular area. Interestingly, recent studies have pointed to a switch in metabolic homeostasis, referred to as the Warburg effect (aerobic glycolysis), as one of the underlying mechanisms of cell proliferation and cyst formation in cystic kidney disease. DFAO are characterized by the inhibition of oxidative phosphorylation, resulting in aerobic glycolysis, and thus they do resemble the Warburg effect. We therefore speculate that this inhibition might be one of the pathomechanisms of renal hyperproliferation and cyst formation in DFAO analogous to the reported findings in ARPKD. Neonatal forms of DFAO can be differentially diagnosed in neonates with cystic or hyperechogenic kidneys and necessitate immediate biochemical work-up to provide early metabolic management.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Hackl, AgnesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mehler, KatrinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gottschalk, IngoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vierzig, AnneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eydam, MarcusUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hauke, JanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beck, Bodo B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Liebau, Max C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ensenauer, ReginaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weber, Lutz T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Habbig, SandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-233503
DOI: 10.1007/s00467-016-3556-5
Journal or Publication Title: Pediatr. Nephrol.
Volume: 32
Number: 5
Page Range: S. 791 - 801
Date: 2017
Publisher: SPRINGER
Place of Publication: NEW YORK
ISSN: 1432-198X
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
COA DEHYDROGENASE-DEFICIENCY; PRENATAL-DIAGNOSIS; MANIFESTATIONS; METABOLISM; ACTIVATION; MECHANISMS; GENEMultiple languages
Pediatrics; Urology & NephrologyMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/23350

Downloads

Downloads per month over past year

Altmetric

Export

Actions (login required)

View Item View Item