Abstract | BACKGROUND: CASE-DIAGNOSIS/TREATMENT: Here we describe a 3-year-old child with a rare clinical picture of PEPD. Extremely painful voiding had been present since the child's birth. The diagnosis was confirmed by the detection of a heterozygous pathogenic mutation in the SCN9A gene, c.554G>A (p.Arg185His) inherited paternally. The same mutation was also found in the girl's father, who has occasionally had some pain in his jaw while yawning since childhood. Significant reduction of the pain was achieved with carbamazepine. CONCLUSIONS: The case is interesting because the same mutation as that found in the girl and her father has been found in patients with small fiber sensory neuropathy. These data do not correlate with the clinical picture of our case and her father, but intra- and interfamily phenotypic diversity in symptoms associated with a gain-of-function variant of Na(V)1.7 are also described and may explain our case.
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Authors | Anamarija Meglič, Mirjana Perkovič-Benedik, Katarina Trebušak Podkrajšek, Sara Bertok |
Journal | Pediatric nephrology (Berlin, Germany)
(Pediatr Nephrol)
Vol. 29
Issue 9
Pg. 1643-6
(Sep 2014)
ISSN: 1432-198X [Electronic] Germany |
PMID | 24817410
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Analgesics, Non-Narcotic
- NAV1.7 Voltage-Gated Sodium Channel
- SCN9A protein, human
- Carbamazepine
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Topics |
- Analgesics, Non-Narcotic
(therapeutic use)
- Base Sequence
- Carbamazepine
(therapeutic use)
- Child, Preschool
- Female
- Humans
- Molecular Sequence Data
- Mutation, Missense
- NAV1.7 Voltage-Gated Sodium Channel
(genetics)
- Pain
(complications, genetics)
- Pedigree
- Rectum
(abnormalities)
- Urination
- Urination Disorders
(drug therapy, genetics)
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