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Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21

A Paripović
A Paripović
, 
A Maver
A Maver
, 
N Stajić
N Stajić
, 
J Putnik
J Putnik
, 
S Ostojić
S Ostojić
, 
B Alimpić
B Alimpić
, 
N Ilić
N Ilić
 und 
A Sarajlija
A Sarajlija
   | 12. März 2024
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Article Category: Case Report
Online veröffentlicht: 12. März 2024
Seitenbereich: 59 - 64
DOI: https://doi.org/10.2478/bjmg-2023-0016
Schlüsselwörter
© 2023 A Paripović et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1.

1.5T Brain MRI of the patient: a–c were performed at the age of 2.5 years; a- pathologically increased signal of the brain parenchyma on T2/DVI/FLAIR sequences, in the projection of the white matter of the cerebellum; b- in the projection of nucleus caudate, globus pallidus, putamen and dentate nuclei there are punctiform and slightly linear zones of reduced signal intensity on the chemo-sensitive sequence, which are hyperintense on T1WI (c); d–f Brain MRI were performed at the age of 4 years; d- in the same regions, there are significantly larger hypointense signal lesions on T2WI/FLAIR sequences and SWI sequences (e), hyperintense on T1WI (f), corresponding to punctiform and serpiginous calcification zones. Mild ventriculomegaly is shown on these sequences.
1.5T Brain MRI of the patient: a–c were performed at the age of 2.5 years; a- pathologically increased signal of the brain parenchyma on T2/DVI/FLAIR sequences, in the projection of the white matter of the cerebellum; b- in the projection of nucleus caudate, globus pallidus, putamen and dentate nuclei there are punctiform and slightly linear zones of reduced signal intensity on the chemo-sensitive sequence, which are hyperintense on T1WI (c); d–f Brain MRI were performed at the age of 4 years; d- in the same regions, there are significantly larger hypointense signal lesions on T2WI/FLAIR sequences and SWI sequences (e), hyperintense on T1WI (f), corresponding to punctiform and serpiginous calcification zones. Mild ventriculomegaly is shown on these sequences.

Key laboratory findings in serum/plasma over the course of the disease in a patient with COXPD21

Laboratory findings in blood 6 months of age 2 years of age 4.5 years of age Reference range
Blood gases
pH 7.4 7.39 7.42 7.35–7.45
HCO3m mmol/L 20.0 16.4 24.2 21–28
Base excess, mmol/L −4.5 −8.5 −0.2 −2−+3
Biochemistry
Serum creatinine, mcmol/L 24 111 274 23–37
GFR*, ml/min 116.4 32 17 ≥90
Cystatin C, mg/L 1.16 2.22 4.5 0.62–1.2
Urea, mmol/L 4.9 15.0 35.0 3.3–7.5
Uric acid, mcmol/L 272 238 148 120–320
Potassium, mmol/L 2.8 6.8 5.8 3.4–4.7
Sodium, mmol/L 136 121 146 136–148
Calcium, mmol/L 2.71 2.27 2.38 2.05–2.74
Magnesium, mmol/L 0.88 0.67 0.90 0.7–1.05
Phosphorus, mmol/L 2.2 0.96 2.88 1.05–1.80
Lactate, mmol/L 2.53 2.15 2.0 0.2–2.0
Hormonal status
Parathyroid hormone, pg/mL 26.3 3.3 17.5 15.8–68.3
25-hydroxyitamin D, nmol/L 47.8 58.9 18.0 75.0–250.0
Thyroid stimulating hormone, mIU/L 1.06 3.58 9.17 0.35–4.94
Free T4, pmol/L 16.63 12.7 8.98 9.0–19.0

Results of urinary analyses over the course of the disease in a patient with COXPD21

Urinalysis 6 months of age 2 years of age 4.5 years of age Reference Range
pH 6.0 6.5 6.5 5–8
Urine- Specific gravity 1010 1010 1005 1010–1030
Urine protein, g/L <0.1 <0.1 <0.1 <0.1
Urine glucose, mmol/L Negative Negative 5.5 Negative
Urine blood, RBC/uL Negative Negative Negative Negative
Urine white blood cells Negative Negative Negative Negative
Protein/Cr, mg/mmoL 20 30 52 <50
Aminoaciduria Negative Negative Generalized Negative
Beta-2 microglobulin/Cr, mg/mmoL 0.14 0.34 26.0 <0.35
Calcium/Cr, mmol/mmol 0.26 0.21 1.64 *
Uric acid/Cr, mmol/mmol 1.4 0.35 0.08 *
FeNa, % 0.8 3.1 32 <1
FeMg, % 6.65 4.98 38.4 <4
TTKG 9 3 2 4–6*
TRP, % 93.8 81.2 45 85–95
TmP/GFR, mmol/L 1.41 1.64 0.78 1.13–1.88
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