Cases reported "Acidosis, Renal Tubular"

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1/304. 3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease.

    3-Methylglutaconic (3-MGC) aciduria with 3-methylglutaconyl-CoA hydratase deficiency (3-MGC aciduria type I) is a rare inherited metabolic disease of L-leucine catabolism. We describe a 9-month-old Japanese boy with this disorder who showed progressive neurological impairments presented as quadriplegia, athetoid movements and severe psychomotor retardation from 4 months of age. This finding indicates the existence of clinical heterogeneity in 3-MGC aciduria type I, suggesting it may present as a neurometabolic disease. ( info)

2/304. Renal tubular acidosis, hypokalemic paralysis, rhabdomyolysis, and acute renal failure--a rare presentation of Chinese herbal nephropathy.

    We encountered a 66-year-old Chinese man presented with hypokalemic paralysis, rhabdomyolysis and acute renal failure after administration of mixed Chinese herbs. Proximal renal tubular acidosis and selective glucosuria were the main tubular dysfunctions. The renal failure recovered smoothly and rapidly after resuscitation and the tubular function abnormalities regained spontaneously after medicine withdrawal. It should be recognized that renal tubular acidosis with hypokalemic paralysis, rhabdomyolysis and subsequent acute renal failure may develop after taking Chinese mixed herbal medicine. ( info)

3/304. hyperkalemia unresponsive to massive doses of aldosterone in a patient with renal tubular acidosis.

    In a 53-year-old male patient aldosterone-refractory hyperkalemia was associated with renal tubular acidosis (RTA) due to chronic interstitial nephritis accompanied by peritubular hyaline deposits in the distal nephron. The hyperkalemia was not caused by an adrenal disorder or acidosis and could not be abolished by diuretics, cortisone, longacting synthetic ACTH, excessive doses of DOCA and aldosterone. The results of our experimental studies carried out on the hyperkalemic RTA patient as well as on various control subjects and patients suggested the presence of a specific defect in renal K excretion associated with a decreased aldosterone responsiveness of the renal tubules presumably due to the peritubular pathology. ( info)

4/304. Primary proximal renal tubular acidosis; A therapeutical approach and long term follow-up.

    This paper reports a case of proximal renal tubular acidosis followed during 4 years, in a 4-year-old girl. High doses of alkali could not be administered owing to gastric intolerance of the patient; diuretic therapy carries the risk of causing severe dehydration or hypotension. We administered such a dose of NaHCO3 to obtain a normal blood pH--with persistent hyperventilation-, subnormal bicarbonatemia, and acid urine. This treatment could cause an improvement of rickets, growth and laboratory data. At present, the biochemical data, including urinary excretion of bicarbonate with normal bicarbonatemia, are normal; this indicates a spontaneous recovery of the syndrome. We think that low doses of alkali are useful in the transient form of proximal renal tubular acidosis to prevent bone lesions and failure to thrive. But even in the irreversible form of this syndrome--when high alkali doses and diuretics cause dangerous effects--this therapy may be useful to treat some symptoms. ( info)

5/304. Distal renal tubular acidosis and high urine carbon dioxide tension in a patient with southeast Asian ovalocytosis.

    Southeast Asian ovalocytosis (SAO) is the best-documented disease in which mutation in the anion exchanger-1 (AE1) causes decreased anion (chloride [Cl-]/bicarbonate [HCO3-]) transport. Because AE1 is also found in the basolateral membrane of type A intercalated cells of the kidney, distal renal tubular acidosis (dRTA) might develop if the function of AE1 is critical for the net excretion of acid. Studies were performed in a 33-year-old woman with SAO who presented with proximal muscle weakness, hypokalemia (potassium, 2.7 mmol/L), a normal anion gap type of metabolic acidosis (venous plasma pH, 7. 32; bicarbonate, 17 mmol/L; anion gap, 11 mEq/L), and a low rate of ammonium (NH4 ) excretion in the face of metabolic acidosis (26 micromol/min). However, the capacity to produce NH4 did not appear to be low because during a furosemide-induced diuresis, NH4 excretion increased almost threefold to a near-normal value (75 micromol/L/min). Nevertheless, her minimum urine pH (6.3) did not decrease appreciably with this diuresis. The basis of the renal acidification defect was most likely a low distal H secretion rate, the result of an alkalinized type A intercalated cell in the distal nephron. Unexpectedly, when her urine pH increased to 7.7 after sodium bicarbonate administration, her urine minus blood carbon dioxide tension difference (U-B Pco2) was 27 mm Hg. We speculate that the increase in U-B Pco2 might arise from a misdirection of AE1 to the apical membrane of type A intercalated cells. ( info)

6/304. Hypokalaemic paralysis revealing Sjogren syndrome in an elderly man.

    A 73 year old white man presented with life threatening hypokalaemic paralysis requiring admission to an intensive care unit. Biochemical investigations showed severe hypokalaemia with hyperchloraemic metabolic acidosis, a spot urine pH of 6.5, and a positive urinary anion gap, establishing the diagnosis of distal renal tubular acidosis. Autoimmune tests revealed Sjogren syndrome as the underlying cause of the distal renal tubular acidosis. Full recovery followed potassium and alkali replacement. This dramatic presentation of Sjogren syndrome has not previously been reported in an elderly man. ( info)

7/304. Long-term follow up of a new case of hawkinsinuria.

    Hawkinsinuria is a rarely diagnosed autosomal dominantly transmitted inborn error of tyrosine metabolism with impaired conversion of 4-hydroxyphenylpyruvate to homogentisate. As a consequence of the defective 4-hydroxyphenylpyruvate dioxigenase activity, large amounts of the unusual, ninhydrin-positive amino acid hawkinsin and later on in life 4-hydroxycyclohexylacetic acid are formed and excreted. Clinically the disease is characterised mainly by chronic metabolic acidosis and severe growth retardation as a result of protein overload. As the ability to form 4-hydroxycyclohexylacetic acid and thereby to cope with the still not very well defined reactive and toxic intermediates increases, clinical symptoms vanish. We report here a new patient with hawkinsinuria having experienced a series of admissions because of unclear hepatopathy, growth retardation, and renal tubular acidosis. CONCLUSION: Prolonged tyrosyluria in the newborn and young baby should cause the clinical chemist not only to exclude tyrosinaemia, galactosaemia, and fructose intolerance but also to look carefully for hawkinsin in the aminoacid chromatogram. ( info)

8/304. pregnancy and renal tubular acidosis.

    Renal tubular acidosis (RTA) is uncommonly encountered in pregnancy. The risk for these women to develop pregnancy-induced hypertension has not been previously described. The renal defect noted in these women, aggravated by the normal hypervolemia of pregnancy, may predispose to hypertension. Three pregnancies in two women with RTA type 1 developed persistent diastolic hypertension in the third trimester. Mild renal insufficiency was noted in each woman as defined by serum creatinine of 0.9-1.1 and 1.4-1.6 mg/dL, respectively. Vaginal delivery was achieved in each without complications. blood pressures returned to normal following each pregnancy. pregnancy-induced hypertension developed in each of three pregnancies in two patients with RTA type 1. The risk for these women to develop pregnancy-induced hypertension may be associated with the higher reported risk in women with underlying renal disease. ( info)

9/304. Acute renal insufficiency due to oral acyclovir in a man with sickle cell trait.

    Several published reports have suggested that oral acyclovir can cause renal insufficiency, but baseline renal function was either abnormal or unclear in those reports. We describe a patient with oral acyclovir-induced acute renal failure and a normal serum creatinine level documented just before exposure to the drug. Conceivably, competition with a cephalosporin for renal tubular elimination predisposed our patient to nephrotoxic serum levels of acyclovir. In addition, the patient had sickle cell trait, which might have contributed to a disproportionate degree of hyperkalemia and acidosis seen early in the patient's clinical course. ( info)

10/304. Distal tubular dysfunction in lupus nephritis of childhood and adolescence.

    We describe a girl with lupus nephritis who presented with distal renal tubular acidosis and hyporeninemic hypoaldosteronism. While distal tubular dysfunction is well recognized in adult systemic lupus erythematosus (SLE), only a few pediatric patients have been reported. Evaluation of five pediatric patients with SLE revealed that distal tubular dysfunction in childhood and adolescence is rare. ( info)
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