Universität zu Köln

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

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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:	Creators Email ORCID ORCID Put Code Hackl, Agnes UNSPECIFIED UNSPECIFIED UNSPECIFIED Mehler, Katrin UNSPECIFIED UNSPECIFIED UNSPECIFIED Gottschalk, Ingo UNSPECIFIED UNSPECIFIED UNSPECIFIED Vierzig, Anne UNSPECIFIED UNSPECIFIED UNSPECIFIED Eydam, Marcus UNSPECIFIED UNSPECIFIED UNSPECIFIED Hauke, Jan UNSPECIFIED UNSPECIFIED UNSPECIFIED Beck, Bodo B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Liebau, Max C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Ensenauer, Regina UNSPECIFIED UNSPECIFIED UNSPECIFIED Weber, Lutz T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Habbig, Sandra UNSPECIFIED UNSPECIFIED UNSPECIFIED
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:	Keywords Language COA DEHYDROGENASE-DEFICIENCY; PRENATAL-DIAGNOSIS; MANIFESTATIONS; METABOLISM; ACTIVATION; MECHANISMS; GENE Multiple languages Pediatrics; Urology & Nephrology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/23350