Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0042963 (vomiting)
 31,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Methylmalonic acidemia (MMA) is an inborn error of organic acid metabolism that occurs in infancy with hypotonia, vomiting, dehydration, lethargy and failure to thrive and is biochemically characterized by metabolic ketoacidosis, hyperammonemia and sometimes hyperglycinemia. It results from deficiency of methylmalonyl-CoA mutase activity due to a defect in the mutase apoenzyme or to deficient function of one of the enzymes required for metabolism of its cofactor vitamin B12. Tubulointerstitial nephritis with progressive impairment of renal function is one of the most frequent long-term complications. We describe a case of a 17-year-old girl with methylmalonic acidemia unresponsive to vitamin B12 therapy. The clinical symptoms appeared at 4 months of life. She progressed into end stage renal disease and in January 1996 she started on hemodialytic treatment. In November 1996 we performed a kidney transplant. At present, urinary excretion of methylmalonic acid is normal and the renal function of the transplanted kidney is normal without any rejection episodes. We think that a kidney transplant could be a good therapeutic choice for the metabolic alterations in MMA with end stage renal disease. Indeed it would seem that the small methylmalonyl-CoA mutase activity present in the transplanted kidney could be sufficient to ensure normal metabolism of organic acids. Otherwise, the therapeutic goal can be achieved with a protein-restricted diet.
 ...
PMID:Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure. 1168 86

Tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare entity first described in 1975, affecting mainly young women and adolescents. We present a case of a 52-year-old female patient (one of the oldest in the literature) who complained of fever, anorexia, nausea, and vomiting. After she was admitted to our hospital, laboratory tests revealed tubular proteinuria, elevated erythrocyte sedimentation rate (ESR), anemia, and renal insufficiency (serum creatinine 4.2 mg/dL) with metabolic acidosis. Ophthalmologic examination revealed anterior uveitis (iritis) and renal biopsy showed acute tubulointerstitial nephritis. The diagnosis of TINU syndrome was established and the patient was treated with oral corticosteroids. All symptoms and ophthalmologic abnormalities disappeared after 6 weeks of treatment. Renal function also recovered completely and remained stable at follow-up. TINU syndrome should be considered in the differential diagnosis of unexplained tubulointerstitial nephritis, especially in the presence of ocular findings. Corticosteroid therapy is still controversial, but it helps in the quick resolution of renal and mainly eye abnormalities.
 ...
PMID:Tubulointerstitial nephritis and uveitis (TINU) syndrome in a 52-year-old female: a case report and review of the literature. 1677 Dec 53

Tubulointerstitial nephritis and uveitis (TINU) is a rare syndrome with unknown pathogenesis. Data have shown a higher prevalence in female gender. We present a man with tubulointerstitial nephritis and uveitis syndrome and antitubular antibody. A 23-year-old man presented with a history of weight loss, nausea, and vomiting, and uveitis. His serum creatinine was 2.1mg/d with pyuria and proteinuria in urinalysis. Other laboratory and imaging studies were unremarkable. Kidney biopsy showed granulomatous interstitial nephritis. Normal renal tissue specimen treated with patient's serum showed focal cytoplasmic staining in cortical tubular cells. The patient received prednisolone for 1 month. Interstitial nephritis and uveitis were well controlled. There was no recurrence in 1-year follow-up. We suggest that tubulointerstitial nephritis and uveitis syndrome should be considered in differential diagnosis of patients with interstitial nephritis and uveitis. Antitubular antibody may be used as a diagnosis marker for this syndrome.
 ...
PMID:Tubulointerstitial nephritis and uveitis: report of a rare syndrome. 2118 39