Universität zu Köln

Koenig, Jens C., Rutsch, Frank, Bockmeyer, Clemens, Baumgartner, Matthias, Beck, Bodo B., Kranz, Brigitta and Konrad, Martin (2015). Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency. Pediatr. Nephrol., 30 (7). S. 1203 - 1207. NEW YORK: SPRINGER. ISSN 1432-198X

Full text not available from this repository.

Abstract

Cobalamin C (CblC) defects are inherited autosomal recessive disorders of vitamin B12 metabolism due to mutations in the MMACHC gene. Renal manifestations include thrombotic microangiopathy (TMA), acute or chronic renal failure, tubulointerstitial nephritis, and proximal renal tubular acidosis. However, reports about glomerular pathologies are scarce. A 4-year-old boy presented with nephrotic syndrome, arterial hypertension, and chronic anemia but no signs of hemolysis. Renal biopsy showed TMA with ischemic glomerular collapse, foot process effacement, and tubulointerstitial fibrosis. Elevated serum levels of homocysteine suggested a cobalamin C disorder. This was confirmed by the identification of compound heterozygous mutations in the MMACHC gene. Initial therapy consisted of antihypertensive treatment including angiotensin converting enzyme inhibitor (ACEi) leading to blood pressure control and a significant reduction of proteinuria. After a definite diagnosis of CblC deficiency, hydroxocobalamin was introduced. Thereafter, homocysteine levels decreased, anemia resolved, and a further decline of proteinuria with normalization of serum protein levels was noted. Renal function remained stable. Although uncommon, the clinical picture of CblC defects may be ruled by nephrotic syndrome mimicking glomerulonephritis, minimal change disease, or primary focal and segmental glomerulosclerosis. Key to a correct diagnosis is elevated serum levels of homocysteine, and a definite diagnosis can be confirmed by genetic testing.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Koenig, Jens C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Rutsch, Frank UNSPECIFIED UNSPECIFIED UNSPECIFIED Bockmeyer, Clemens UNSPECIFIED UNSPECIFIED UNSPECIFIED Baumgartner, Matthias UNSPECIFIED UNSPECIFIED UNSPECIFIED Beck, Bodo B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kranz, Brigitta UNSPECIFIED UNSPECIFIED UNSPECIFIED Konrad, Martin UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-400726
DOI:	10.1007/s00467-015-3110-x
Journal or Publication Title:	Pediatr. Nephrol.
Volume:	30
Number:	7
Page Range:	S. 1203 - 1207
Date:	2015
Publisher:	SPRINGER
Place of Publication:	NEW YORK
ISSN:	1432-198X
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language HEMOLYTIC-UREMIC SYNDROME; CBLC DEFECT; ATYPICAL GLOMERULOPATHY; METHYLMALONIC ACIDURIA; METABOLISM; SERIES Multiple languages Pediatrics; Urology & Nephrology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/40072