Acetazolamide-induced nephrolithiasis: implications for treatment of neuromuscular disorders.

Neuromuscular Disease Center, University of Rochester School of Medicine and Dentistry, NY 14642.
Neurology (Impact Factor: 8.3). 07/1993; 43(6):1105-6. DOI: 10.1212/WNL.43.6.1105
Source: PubMed

ABSTRACT Carbonic anhydrase inhibitors can cause nephrolithiasis. We studied 20 patients receiving long-term carbonic anhydrase inhibitor treatment for periodic paralysis and myotonia. Three patients on acetazolamide (15%) developed renal calculi. Extracorporeal lithotripsy successfully removed a renal calculus in one patient and surgery removed a staghorn calculus in another, permitting continued treatment. Renal function remained normal in all patients. Nephrolithiasis is a complication of acetazolamide but does not preclude its use.

  • [Show abstract] [Hide abstract]
    ABSTRACT: Introduction Paramyotonia congenita is an autosomal dominant sodium channelopathy, caused by mutations in gene coding for muscle voltage-gated sodium channel α subunit. Case report We report the case of a 38-year-old man who described since childhood muscle stiffness with attacks ok weakness induced by two provocative stimuli: cold exposure and exercise. It primarily concerned eyelids and hands, occasionally limbs. Family history suggested an autosomal dominant mode of transmission. Clinical examination revealed myotonia at the thenar eminence percussion. Generalized myotonic discharges were observed on electromyography. Molecular diagnosis reported an Arg1448Cys mutation in exon 24 in gene coding for muscle voltage-gated sodium channel α subunit (SCN4A) in chromosome 17. Conclusion Paramyotonia congenita is not evolutive. Treatment is essentially preventive. Some medications could be proposed: membrane stabilizing agents like antiarrhythmic drugs (mexiletine, tocainide), or the carbonic anhydrase inhibitor (acetazolamide). Precautions may be taken during general anaesthesia because of diaphragm myotonia risk.
    Revue Neurologique 11/2007; 163(11):1083-1090. · 0.60 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: For many years, there have been anecdotal reports of vision changes by astronauts following short and long-duration spaceflight. Much of this was attributed to hyperopic shifts related to the age of the flying population. However, it has recently been recognized that vision changes are actually quite common in astronauts and are associated with a constellation of findings including elevated intracranial pressure, optic disc edema, globe flattening, optic nerve sheath thickening, hyperopic shifts and retinal changes. With advanced imaging modalities available on the ground along with the fidelity of in-flight diagnostic capabilities previously unavailable, information on this newly recognized syndrome is accumulating. As of this writing, 11 cases of visual impairment experienced by astronauts during missions on-board the International Space Station (ISS) have been documented and studied. Although the exact mechanisms of the vision changes are unknown, it is hypothesized that increased intracranial pressure (ICP) is a contributing factor.Microgravity is the dominant cause of many physiological changes during spaceflight and is thought to contribute significantly to the observed ophthalmic changes. However, several secondary factors that could contribute to increased ICP and vision changes in spaceflight have been proposed. Possible contributors include microgravity-induced cephalad fluid shift, venous obstruction due to microgravity-induced anatomical shifts, high levels of spacecraft cabin carbon dioxide, heavy resistive exercise, and high sodium diet. Individual susceptibility to visual impairment is not fully understood, though a demographic of affected astronauts is emerging.This paper describes the current understanding of this newly recognized syndrome, presents data from 11 individual cases, and discusses details of potential contributing factors. The occurrence of visual changes in long duration missions in microgravity is one of the most significant clinical issues to date for the human spaceflight community, and a comprehensive understanding of the issue at whole is critical to ensure safe space exploration in the future.
    Acta Astronautica 06/2013; 87:77–87. · 0.82 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Transient attacks of weakness in hypokalaemic periodic paralysis are caused by reduced fibre excitability from paradoxical depolarization of the resting potential in low potassium. Mutations of calcium channel and sodium channel genes have been identified as the underlying molecular defects that cause instability of the resting potential. Despite these scientific advances, therapeutic options remain limited. In a mouse model of hypokalaemic periodic paralysis from a sodium channel mutation (NaV1.4-R669H), we recently showed that inhibition of chloride influx with bumetanide reduced the susceptibility to attacks of weakness, in vitro. The R528H mutation in the calcium channel gene (CACNA1S encoding CaV1.1) is the most common cause of hypokalaemic periodic paralysis. We developed a CaV1.1-R528H knock-in mouse model of hypokalaemic periodic paralysis and show herein that bumetanide protects against both muscle weakness from low K(+) challenge in vitro and loss of muscle excitability in vivo from a glucose plus insulin infusion. This work demonstrates the critical role of the chloride gradient in modulating the susceptibility to ictal weakness and establishes bumetanide as a potential therapy for hypokalaemic periodic paralysis arising from either NaV1.4 or CaV1.1 mutations.
    Brain 10/2013; · 10.23 Impact Factor