Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020438 (hypercalciuria)
 2,502 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case of a two month-old child admitted because of dystrophy is presented. At physical examination she presented a growth retardation (-2DS) as well as cutaneous and mucosal pallor. Metabolic acidosis, hyponatremia, hyperkaliemia and salt loss were demonstrated. Aldosterone, both plasmatic and urinary, was increased. Plasma renin activity, was also increased. In respect to renal function, hypercalciuria was found but not other abnormalities neither in the renal nor suprarrenal function were noticed. The electrolytic levels in sweat, saliva and feces were also normal. The clinical and laboratory findings were not modified with the DOCA test. Spirolactone caused an increase in salt loss. Treatment with indometacine improved both the clinical and analytical findings. On the other hand, treatment with chloride sodium (4 gr p.o. per day) also improved dramatically the disturbances. In the last 12 months she has growth up normally. At the same time, the renal loss of sodium has decreased and aldosterone, both plasmatic and urinary, is not so increased as it was at diagnosis. Finally, electrolytic parameters are fully normal.
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PMID:[Review of pseudohypoaldosteronism. Apropos of a clinical case in a 2-month-old girl]. 639 46

A-14-year old boy, presented with a short history of excessive thirst and increased urine output. Clinical examination showed pallor, generalized lymphadenopathy and hepatosplenomegaly. For evaluation of his polyuric state he underwent routine laboratory investigations, including renal function test, acid-base studies, urine analysis. Blood tests suggested hypokalemia, hypouricemia, hypocalcemia and hyperchloremia with normal liver and kidney function tests. The arterial blood gas analysis was suggestive of normal anion gap metabolic acidosis. Urine analysis was suggestive of hyperuricosuria, hypercalciuria and glycosuria with a positive urine anion gap. His hemogram showed pancytopenia with differential count showing 88% blasts. Bone marrow examination and flowcytometry confirmed the diagnosis of B cell acute lymphoblastic leukemia. Hence this case was atypical and very interesting in the sense that the Fanconi syndrome is very rare to be an initial presenting feature of acute lymphoblastic leukemia. The patient was started on oral as well intravenous supplementation with potassium, bicarbonate, calcium and phosphorus. Simultaneously, as per the modified BFM -90 protocol (four drug based regimen-Prednisolone, vincristine, daunorubicin, cyclophosphamide along with l-asparaginase), he was started on induction protocol. By the end of 3rd week of induction therapy, his urine output started normalizing and finally settled at the end of induction therapy. At present he is in the maintenance phase of chemotherapy.
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PMID:Fanconi Syndrome: A Rare Initial Presentation of Acute Lymphoblastic Leukemia. 2740 43