Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0005940 (bone disease)
 7,459 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical and laboratory findings in 14 infants, 2 children and 42 adults with RTA-1 have been retrospectively analyzed and the patients classified as having the hereditary (14%), acquired (31%), or idiopathic (55%) form. In 7 of the 8 hereditary cases, RTA-1 appeared to be a complication of hereditary hypercalciuria. The majority of acquired cases (61%) were secondary to immune-mediated diseases. All of the 14 infants with RTA-1 were classified as idiopathic. All of the idiopathic cases in children and adults were associated with nephrolithiasis and/or nephrocalcinosis, 33% of which had a family history of nephrolithiasis. The 14 infants presented with failure to thrive. Seventy-seven percent of children and adults with RTA-1 had nephrolithiasis and/or nephrocalcinosis and usually presented with symptoms related to this problem. Adults without nephrolithiasis or nephrocalcinosis usually presented with electrolyte disturbances or acidosis. Hypokalemia, the most common electrolyte disturbance, was present in 28% of the entire series. Acidosis was present in all infants and in 70% of children and adults. Clinically apparent bone disease was observed in 3 infants, and in 1 adult with nephrolithiasis. Glomerular function was normal in infants and in the 2 children, but depressed in 40% of adults. Recurrent urinary tract infection was a contributing factor but was not the sole cause of renal failure. Surprisingly, kidney stone number, the number of surgical procedures, and the presence of nephrocalcinosis had no apparent effect on the development of renal failure. Glomerular filtration rate was significantly higher in patients with incomplete RTA-1, and serum total CO2 was significantly correlated with creatinine clearance and minimum urinary pH. Hypercalciuria was present in 32% of patients with nephrolithiasis and/or nephrocalcinosis, and urinary citrate excretion was low in all of 16 patients in whom it was measured. Hypocitraturia appeared to be due in most cases to potassium depletion and renal failure, but may have occurred as a primary defect in 1 patient with hereditary RTA. Urinary uric acid excretion was elevated in 23% of patients with stones in whom it was measured. The mean number of stone-forming events was 51 +/- 14. Although a weak correlation between urinary calcium excretion and stone number was observed, the cause for prodigious stone formation could not be explained. This series emphasizes the variable degree to which the common clinical manifestations of RTA-1 (metabolic acidosis, hypercalciuria, nephrolithiasis, nephrocalcinosis, and potassium depletion) are expressed.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:The syndrome of distal (type 1) renal tubular acidosis. Clinical and laboratory findings in 58 cases. 312 50

Twelve patients who had been on intermittent peritoneal dialysis (IPD) for an average of 18.3 months each, were switched to continuous ambulatory peritoneal dialysis (CAPD). CAPD experience is now 118 patient months (average 9.8 months per patient), and ten patients remain on CAPD. Serum chemistries reflected the change to continuous dialysis with a fall in serum creatinine, potassium, uric acid, phosphate, and BUN. The total CO2 rose markedly, indicating prevention of the recurrent metabolic acidosis experienced in IPD. Serum phosphate fell significantly into the normal range. Serum calcium rose slightly in six patients and significantly in three others. Serum alkaline phosphatase activity rose in seven patients, without development of clinical evidence of bone disease. Mean hematocrit values were higher in most patients of CAPD, but fell again after one year. The transient nature of the rise in hematocrit suggests that improved volume control, as reflected in blood pressure changes, may play a role in the frequently reported increase in hematocrit on CAPD. Despite an increase in peritonitis rate (one infection per 5.9 patient months on CAPD, versus one per 12.2 patient months on IPD), CAPD offers several distinct advantages over IPD, especially in control of uremic acidosis, phosphate retention, blood pressure and fluid management, as well as an overall improvement in physical and psychosocial well-being.
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PMID:Longitudinal comparison of intermittent versus continuous ambulatory peritoneal dialysis, in the same patients. 679 67

Lung transplantation has become an excellent treatment option for patients with cystic fibrosis (CF) and bronchiectasis with very advanced lung disease. Despite the challenges that the CF patients present, survival is more favorable than that seen in patients with chronic obstructive pulmonary disease and pulmonary fibrosis. Although those CF and bronchiectasis patients with severe respiratory disease are often infected with organisms that display in vitro resistance to the commonly used antibiotics, they usually have successful outcomes with transplantation, which are reported to be the same as in those patients with less resistant bacteria. Preoperative synergy testing has been demonstrated to reduce the presence of postoperative bacteremia and empyema in patients with CF. Newer challenges include the increasing presence of nontuberculous mycobacteria and in particular the rapid grower Mycobacterium abscessus, for which patient-to-patient spread has been recently recognized. The increased recognition of gastroesophageal reflux offers challenges regarding when and to whom one should offer fundoplication. Most potential CF recipients have metabolic bone disease warranting treatment, especially with the significant loss of bone density seen in the first year after transplantation. Diabetes mellitus, renal dysfunction, and hypertension and their consequences remain common and are of increasing importance as median survival increases in excess of 10 years. With increased experience, more programs are now transplanting patients who require membrane oxygenator support in addition to noninvasive ventilation pretransplantation and the use of a membrane device in the awake patient principally to remove excessive CO2 and reduce acidemia is worthy of note (Novalung; Novalung GmbH, Heilbronn, Federal Republic of Germany). Many centers now take the view that an awake and ambulant patient receiving such support represents a more favorable option than an intubated patient. The limiting factor in lung transplantation remains the number of organs available. Efforts to increase the donor pool, such as low tidal volume ventilation, are effective in allowing a greater percentage of offered organs to be accepted. Perhaps the most encouraging development, however, is that of ex vivo lung perfusion. This permits not only the ability to measure the function of the lungs, something of great value for lungs from donors with circulatory death (donation after cardiac death), but also the potential to introduce lung repair and convert a nonusable lung to one that can be safely used for transplantation.
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PMID:Lung transplantation for cystic fibrosis and bronchiectasis. 2382 5