Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This retrospective study was performed on 92 patients diagnosed with acute renal failure (ARF) post discontinuous rifampicin treatment, admitted between 1974-2000, in Hemodialysis Center of 1st Timisoara Clinical County Hospital. The passage from the continuous treatment (7/7) to discontinuous RMP treatment triggered the ARF in 77 patients and the restart of the treatment after one year or more of treatment arrest, lead to ARF in 15 cases. The ARF symptomatology appeared in the first 12 hrs of treatment resumption in 14.13% cases and in 85.87% after 38.5 +/- 8.2 hrs. The most frequent symptoms were lumbar pain in 76.08%, nausea and vomiting in 60.86%, abdominal pain (52.17% of cases) flu-like (fever, chills, myalgia), jaundice, diarrhea, hypotension, confusion and hypertension in only 7.6% of cases. In 94.56% of cases renal symptoms appeared in normal kidneys. The renal injury evolution was favorable, with significant improvements after 20 days in serum and urine biological parameters. The antibodies anti-RMP were present in serum 55.43% of patients, in 80.39% of them, the presence of antibodies was related to high values of gamma-globulins. In 33.69% of patients sterile leukocyturia, considered a marker of interstitial nephritis, was present. The most frequent associated ARF complications were the hemolytic anemia emphasized by high levels of unconjugated bilirubin and positive Coombs' test in 93.3% of patients, and liver injuries, present in 41.69% of cases. Thrombocytopenia was registered in 27.7% of cases, infections in 28.6%, gastrointestinal complications in 11.95%, and cardiovascular complications in 9.78% of cases, these severe forms leading to the death of patients. The ARF post discontinuous rifampicin treatment presents a favorable evolution even when it is associated with other organ or systems complications. The ARF and associated complications are due to the specific immune system activation by rifampicin, and by direct toxic effects of rifampicin at tissues level.
 ...
PMID:[Specific features of acute renal failure in patients treated with rifampicin]. 1204 71

Voltage-gated sodium channel Nav1.9 is a threshold channel that regulates action potential firing. Nav1.9 is preferentially expressed in myenteric neurons, and small-diameter dorsal root ganglion (DRG) and trigeminal ganglion neurons including nociceptors. Recent studies have demonstrated a monogenic Mendelian link of Nav1.9 to human pain disorders. Gain-of-function variants in Nav1.9, which cause smaller depolarizations of RMP, have been identified in patients with familial episodic pain type 3 (FEPS3) and the more common pain disorder small fiber neuropathy. To explore the phenotypic spectrum of Nav1.9 channelopathy, here we report a new Nav1.9 mutation, N816K, in a child with early-onset episodic pain in both legs, episodic abdominal pain, and chronic constipation. Sequencing of further selected pain genes was normal. N816K alters a residue at the N-terminus of loop 2, proximal to the cytoplasmic terminus of transmembrane segment 6 in domain II. Voltage-clamp recordings demonstrate that Nav1.9-N816K significantly increases current density and hyperpolarizes voltage-dependence of activation by 10 mV, enabling a larger window current. Current-clamp recordings in DRG neurons shows that N816K channels depolarize RMP of small DRG neurons by 7 mV, reduce current threshold of firing an action potential and render DRG neurons hyperexcitable. Taken together these data demonstrate gain-of-function attributes of the newly described N816K mutation at the channel and cellular levels, which are consistent with a pain phenotype in the carrier of this mutation.
 ...
PMID:A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain. 3155 82