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Glutaric Aciduria type I and acute renal failure — Coincidence or causality?

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ABSTRACT

Glutaric Aciduria type I (GA-I) is a rare organic acidemia, caused by mutations in the GCDH gene, and characterized by encephalopathic crises with neurological sequelae. We report herein a patient with GA-I who presented with severe acute renal failure requiring dialysis, following an acute diarrheal illness. Histopathological evaluation demonstrated acute tubular necrosis, and molecular diagnosis revealed the patient to be homozygous for a previously unreported mutation, p.E64D. As renal impairment is not part of the clinical spectrum typical to GA-I, possible associations of renal failure and the underlying inborn error of metabolism are discussed, including recent advancements made in the understanding of the renal transport of glutaric acid and its derivatives during metabolic disturbance in GA-I.

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Light (A) and electron (B) microscopy of kidney biopsy, revealing intact glomeruli (G), with edematous interstitium (I) and distended proximal tubules (T) with damaged epithelial cells, lack of basement membrane and cellular debris in the lumen, consistent with tubular necrosis.
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f0010: Light (A) and electron (B) microscopy of kidney biopsy, revealing intact glomeruli (G), with edematous interstitium (I) and distended proximal tubules (T) with damaged epithelial cells, lack of basement membrane and cellular debris in the lumen, consistent with tubular necrosis.

Mentions: Finally, as the etiology for the renal failure was not fully understood, nor was it explained by his baseline inborn error of metabolism, a kidney biopsy was obtained on the sixth day of hospitalization (18 days after the onset of the acute intercurrent illness). The biopsy was negative for immune complexes on immunofluorescence studies, showed glomeruli of normal morphology, and significant tubular damage, with distended tubules, damaged epithelial cells, no brush border and cellular debris in the tubular lumen, with edema of the interstitium, on both light- and electron-microscopies (Fig. 2).


Glutaric Aciduria type I and acute renal failure — Coincidence or causality?
Light (A) and electron (B) microscopy of kidney biopsy, revealing intact glomeruli (G), with edematous interstitium (I) and distended proximal tubules (T) with damaged epithelial cells, lack of basement membrane and cellular debris in the lumen, consistent with tubular necrosis.
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC5121326&req=5

f0010: Light (A) and electron (B) microscopy of kidney biopsy, revealing intact glomeruli (G), with edematous interstitium (I) and distended proximal tubules (T) with damaged epithelial cells, lack of basement membrane and cellular debris in the lumen, consistent with tubular necrosis.
Mentions: Finally, as the etiology for the renal failure was not fully understood, nor was it explained by his baseline inborn error of metabolism, a kidney biopsy was obtained on the sixth day of hospitalization (18 days after the onset of the acute intercurrent illness). The biopsy was negative for immune complexes on immunofluorescence studies, showed glomeruli of normal morphology, and significant tubular damage, with distended tubules, damaged epithelial cells, no brush border and cellular debris in the tubular lumen, with edema of the interstitium, on both light- and electron-microscopies (Fig. 2).

View Article: PubMed Central - PubMed

ABSTRACT

Glutaric Aciduria type I (GA-I) is a rare organic acidemia, caused by mutations in the GCDH gene, and characterized by encephalopathic crises with neurological sequelae. We report herein a patient with GA-I who presented with severe acute renal failure requiring dialysis, following an acute diarrheal illness. Histopathological evaluation demonstrated acute tubular necrosis, and molecular diagnosis revealed the patient to be homozygous for a previously unreported mutation, p.E64D. As renal impairment is not part of the clinical spectrum typical to GA-I, possible associations of renal failure and the underlying inborn error of metabolism are discussed, including recent advancements made in the understanding of the renal transport of glutaric acid and its derivatives during metabolic disturbance in GA-I.

No MeSH data available.


Related in: MedlinePlus