Journal of Medical Cases, ISSN 1923-4155 print, 1923-4163 online, Open Access |
Article copyright, the authors; Journal compilation copyright, J Med Cases and Elmer Press Inc |
Journal website http://www.journalmc.org |
Case Report
Volume 9, Number 11, November 2018, pages 355-359
Case Report of Hereditary Coproporphyria Accompanied by Nystagmus and Vestibular Dysfunction
Table
Asymptomatic fall/winter months | |||
---|---|---|---|
PBG in urine | |||
Porphobilinogen | Site/Spec. 25 Jan 2018 1533 | Units | Ref Rng |
Porphobilinogen/creatinine | Urine | 1.7 mg/L | 0.0 - 2.0 |
Porphobilinogen | Site/Spec. 14 Dec 2017 1141 | Units | Ref Rng |
Porphobilinogen/creatinine | Urine | 1.6 mg/L | 0.0 - 2.0 |
Porphyrins, fecal 2 Nov 2017 | Site/Spec. 2 Nov 2017 | Units | Ref Rng |
Coproporphyrin | Feces | < 12.0 nmol/g | 0.0 - 44.901 |
Protoporphyrin | < 12.0 nmol/g | 0.0 - 150.0 | |
Porphyrin quant urine | Site/Spec. 01 Nov 2017 1000 | Units | Ref Rng |
Uroporphyrin 24 h | Urine | 3 mcg/L | Undefined |
Uroporphyrin 24 h | Urine | 2 mcg/24 h | 0 - 24 |
Heptacarboxylporphyrin | Urine | 2 mcg/L | Undefined |
Heptacarboxylporphyrin | Urine | 1 mcg/24 h | 0 - 4 |
Heptacarboxylporphyrin | Urine | < 1 mcg/L | Undefined |
Heptacarboxylporphyrin | Urine | < 1 mcg/24 h | 0 - 1 |
Pentacarboxylporphyrins | Urine | < 1 mcg/L | Undefined |
Pentacarboxylporphyrins | Urine | < 1 mcg/24 h | 0 - 4 |
Coproporphyrin 1 | Urine | 16 mcg/L | Undefined |
Coproporphyrin 1 | Urine | 8 mcg/24 h | 0 - 24 |
Coproporphyrin 3 | Urine | 37 mcg/L | Undefined |
Coproporphyrin 3 | Urine | 19 mcg/24 h | 0 - 74 |
PBG in urine | |||
Porphobilinogen 24 h urine | Site/Spec. 31 Oct 2017 0900 | Units | Ref Rng |
Porphobilinogen 24 h | Urine | 0.6 mg/L | 0.0 - 2.0 |
Volume 24 h | Urine | 0.3 mg/24 h | 0.0 - 1.5 |
δ-ALA 24-h urine | Site/Spec. 31 Oct 2017 0900 | Units | Ref Rng |
Delta aminolevulinate 24 h | Urine | 1.4 mg/L | Undefined |
Delta aminolevulinate 24 h | Urine | 0.7 mg/24 | 0.5 - 5.1 |
Symptomatic fall/summer months | |||
Porphyrins quant urine | Site/Spec. 10 Aug 2017 1032 | Units | Ref Rng |
Heptacarboxylate | Urine | *12 mcg/L | 0 - 2 |
Uroporphyrin | Urine | *27 mcg/L | 0 - 20 |
Pentacaroxyl (5-CP) | Urine | *3 mcg/L | 0 - 2 |
Coproporphyrin | Urine | *80 mcg/L | 0 - 15 |
Hexacarboxylate | Urine | < 1 mcg/L | 0 - 1 |
Coproporphyrin 3 | Urine | < 64 mcg/L | 0 - 49 |
Porphyrins fractionated | Site/Spec. 22 Aug 2017 | Units | Ref Rng |
Uroporphyrin | Plasma | < 1.0 mcg/dL | 0.0 - 1.0 |
Pentacarboxylporphyrins | Plasma | < 1.0 mcg/dL | 0.0 - 1.0 |
Protoporphyrin | Plasma | < 1.0 mcg/dL | 0.0 - 1.0 |
Coproporphyrin | Plasma | < 1.0 mcg/dL | 0.0 - 1.0 |
Porphyrins quant 24-h urine | Site/Spec. 22 Aug 2017 | Units | Ref Rng |
Uroporphyrin 24 h | Urine | 11 mcg/L | Undefined |
Uroporphyrin 24 h | Urine | 7 mcg/24 h | 0 - 24 |
Heptacarboxylporphyrin | Urine | 5 mcg/L | Undefined |
Heptacarboxylporphyrin | Urine | 3 mcg/24 h | 0 - 4 |
Heptacarboxylporphyrin | Urine | 1 mcg/L | Undefined |
Heptacarboxylporphyrin | Urine | 1 mcg/24 h | 0 - 1 |
Pentacarboxylporphyrins | Urine | 1 mcg/L | Undefined |
Pentacarboxylporphyrins | Urine | 1 mcg/24 h | 0 - 4 |
Coproporphyrin 1 | Urine | 53 mcg/L | Undefined |
Coproporphyrin 1 | Urine | *32 mcg/24 h | 0 - 24 |
Coproporphyrin 3 | Urine | 46 mcg/L | Undefined |
Coproporphyrin 3 | Urine | 28 mcg/24 h | 0 - 24 |