nephrocalcinosis/fiebre

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[A case of nephrocalcinosis due to Sjögren syndrome associated with renal tubular acidosis].

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A 39-year-old women was admitted to the hospital because of fever, lumbago and recurrent history of spontaneous stone discharge. An abdominal X-ray film demonstrated multiple calculi in the medullary positions of both kidneys and right multiple ureteral stones. Laboratory examinations showed

Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study.

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A 7-month-old male infant was referred for investigation after a documented febrile urinary tract infection. His past medical history was characterized by episodes of unexplained fever and mild dehydration. The ultrasound examination of his kidneys demonstrated bilateral diffuse medullary

[Familial hypomagnesemia, hypercalciuria with nephrocalcinosis syndrome: report of a case].

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Familial hypomagnesemia and hypercalciuria with nephrocalcinosis is a rare autosomal recessive disease characterized by renal calcium and magnesium wasting, evolving in the progressive decrease of renal function, eventually requiring kidney transplant. Clinical findings include urinary infection,

Clinical and radiological features of extra-pulmonary sarcoidosis: a pictorial essay.

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The aim of this manuscript is to describe radiological findings of extra-pulmonary sarcoidosis. Sarcoidosis is an immune-mediated systemic disease of unknown origin, characterized by non-caseating epitheliod granulomas. Ninety percent of patients show granulomas located in the lungs or in the

Williams syndrome with severe hypercalcaemia.

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We present an 11-month-old girl child with complaints of constipation, cough, fever, vomiting and growth retardation. On examination, she had facial dysmorphism, hypertension and murmur. The genetic evaluation showed 7q microdeletion specific to Williams syndrome. Abdominal imaging was suggestive of

Hyperprostaglandin E syndrome: use of indomethacin and steroid, and death due to necrotizing enterocolitis and sepsis.

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Hyperprostaglandin E syndrome (HPS) is the antenatal variant of Bartter syndrome and characterized by polyhydramnios and preterm delivery in the antenatal period and salt-wasting, isosthenuric or hyposthenuric polyuria, hypercalciuria and nephrocalcinosis in the postnatal period. We report a

Caroli's syndrome with ureterovesical calculi in a young child.

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An 18-month-old boy was admitted with fever, abdominal pain, and hepatomegaly. CT scan revealed dilatation of intrahepatic biliary radicals with central dot sign, bilateral nephrocalcinosis, multiple ureteric and urinary bladder stones and right-sided obstructive hydroureteronephrosis due to a

[Caroli's syndrome].

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OBJECTIVE Caroli's syndrome is a rare autosomal recessive hereditary disease. Here a case of Caroli's syndrome associated with medullary sponge kidney was reported. The patient was a 2-years and 10 months-old boy. He presented with hepatosplenomegaly. Fever, abdominal pain or jaundice was not found.

Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome.

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A congenital hypokalemic tubular disorder is described with many features resembling Bartter syndrome. Additional features include prenatal onset with polyhydramnios and premature labor; failure to thrive; episodes of fever, vomiting, diarrhea, and renal electrolyte and water wastage;

[Hypercalcemia and multiple osteolytic lesions in a child with disseminated paracoccidioidomycosis and pulmonary tuberculosis].

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OBJECTIVE To describe the case of a child with paracoccidioidomycosis who presented hypercalcemia with multiple osteolytic lesions. METHODS A 6-year-old boy was admitted with a one-month history of fever and hepatosplenomegaly. On admission, he looked sick, pale, and had disseminated lymphadenopathy

Heterozygous mutations of the gene for Kir 1.1 (ROMK) in antenatal Bartter syndrome presenting with transient hyperkalemia, evolving to a benign course.

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Bartter-like syndrome encompasses a set of inherited renal tubular disorders associated with hypokalemic metabolic alkalosis, renal salt wasting, hyperreninemic hyperaldosteronism, and normal blood pressure. Antenatal Bartter syndrome, a subtype of Bartter-like syndrome, is characterized by

Bartter syndrome in Costa Rica: a description of 20 cases.

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Bartter syndrome involves an overlapping set of closely related renal tubular disorders which can be subdivided into at least three clinical phenotypes: (1) classic Bartter syndrome (2) Gitelman syndrome, and (3) a neonatal variant of Bartter syndrome. In contrast to classic Bartter syndrome and

TRNT1 deficiency: clinical, biochemical and molecular genetic features.

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TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a new metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs). We investigated four patients from two families with infantile-onset cyclical, aseptic

Severe hypercalcaemia due to subcutaneous fat necrosis: presentation, management and complications.

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OBJECTIVE Subcutaneous fat necrosis (SCFN) is a rare form of panniculitis in infants that generally occurs following birth trauma, meconium aspiration, or therapeutic cooling. Severe hypercalcaemia occurs in a subset of patients, but data on its presentation, management and outcomes are limited.

Bartter and related syndromes: the puzzle is almost solved.

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It is now evident that the term Bartter syndrome does not represent a unique entity but encompasses a variety of disorders of renal electrolyte transport. Application of molecular biology techniques has permitted a better understanding of these "Bartter-like syndromes," which at present can be

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