Congenital eyelid ptosis, decreased glomerular filtration, and orthostatic hypotension: Questions

Pediatr Nephrol. 2017 Jul;32(7):1169-1170. doi: 10.1007/s00467-016-3494-2. Epub 2016 Nov 17.
No abstract available

Keywords: Dopamine beta hydroxylase deficiency; Orthostatic hypotension; Proximal tubule.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Autonomic Nervous System Diseases / blood
  • Autonomic Nervous System Diseases / diagnosis*
  • Autonomic Nervous System Diseases / genetics
  • Autonomic Nervous System Diseases / pathology
  • Biogenic Monoamines / blood
  • Blepharoptosis / blood
  • Blepharoptosis / diagnosis*
  • Blepharoptosis / genetics
  • Consanguinity
  • Creatinine / blood
  • Dopamine beta-Hydroxylase / blood
  • Dopamine beta-Hydroxylase / deficiency*
  • Dopamine beta-Hydroxylase / genetics
  • Female
  • Glomerular Filtration Rate
  • Heart Rate
  • Humans
  • Hypotension, Orthostatic / blood
  • Hypotension, Orthostatic / diagnosis*
  • Hypotension, Orthostatic / genetics
  • Kidney Tubules / cytology
  • Kidney Tubules / pathology
  • Kidney Tubules / ultrastructure
  • Microscopy, Electron
  • Mitochondria / pathology
  • Mitochondria / ultrastructure
  • Muscle, Skeletal / cytology
  • Muscle, Skeletal / pathology
  • Norepinephrine / blood
  • Norepinephrine / deficiency*
  • Norepinephrine / genetics

Substances

  • Biogenic Monoamines
  • Creatinine
  • Dopamine beta-Hydroxylase
  • Norepinephrine

Supplementary concepts

  • dopamine beta hydroxylase deficiency