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1/21. hypercalciuria and urolithiasis in a case of costello syndrome.

    costello syndrome is characterized by postnatal growth deficiency, mental retardation, curly hair, coarse characteristic face, and loose skin of hands and feet. patients with this syndrome have a high incidence of cardiac involvement, including arrhythmia, atrial septal defect, and hypertrophic cardiomyopathy. We report a 16-year-old adolescent female with costello syndrome who presents with hypercalciuria and urolithiasis.
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2/21. A familial syndrome due to Arg648Stop mutation in the X-linked renal chloride channel gene.

    We describe a familial syndrome in two brothers who were investigated after the casual discovery of tubular proteinuria in their 1st month of life. During a follow-up of 20 and 11 years, respectively, the two children grew well and were asymptomatic, but developed the same biochemical abnormalities, i.e., tubular proteinuria and hyperphosphaturia, progressive decrease in serum phosphorus below the normal values for age, and an increase in serum 1,25-dihydroxyvitamin D levels over normal values. Moreover, hyperabsorptive hypercalciuria and systemic osteopenia developed and progressively worsened. In both children, at a different age, medullary nephrocalcinosis appeared. The oldest boy suffered a progressive decrease in urinary concentration ability and in glomerular filtration rate. Oral phosphate supplementation led to reversal of all biochemical abnormalities, with the exception of decreased phosphate tubular reabsorption and tubular proteinuria. With long-term phosphate supplementation, a normal bone mass was reached, while progression of nephrocalcinosis was arrested and impairment of renal function was slowed down. In a family study (siblings and parents), the only detectable abnormality was microglobinuria in the mother, thus suggesting a X-linked inheritance of this disorder. In the two probands a mutation within the renal chloride channel gene (CLCN5) was discovered.
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3/21. IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies.

    We report three boys with adrenal hypoplasia congenita (AHC) and additional findings that represent a new syndrome, IMAGe: Intrauterine growth retardation, Metaphyseal dysplasia, AHC, and Genital anomalies. Each presented shortly after birth with growth retardation and severe adrenal insufficiency. Each of the three patients had mild dysmorphic features, bilateral cryptorchidism, a small penis, and hypogonadotropic hypogonadism. Skeletal surveys revealed metaphyseal dysplasia in all three and epiphyseal dysplasia in two. The patients had documented or suspected hypercalciuria and/or hypercalcemia, resulting in nephrocalcinosis in one and in prenatal liver and spleen calcifications in another. AHC presents most often either as an isolated abnormality, caused by mutations in the DAX1 gene, or as part of an Xp21 contiguous gene syndrome, caused by a deletion of the Duchenne muscular dystrophy, glycerol kinase, and DAX1 genes. All three patients with the IMAGe association had normal creatine kinase levels and no evidence of glycerol kinase deficiency. sequence analysis of dna from these patients revealed no mutation in the DAX1- or steroidogenic factor-1-coding sequences, nor was a deletion of DAX1 detected. Identification of the molecular basis of the IMAGe association will give new insight into the pathogenesis of this syndromic relationship involving bone, adrenal cortical, and pituitary development.
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keywords = hypercalciuria
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4/21. Renal hypomagnesemia, hypercalciuria and nephrocalcinosis in a middle-aged man.

    We report a 41-year-old man with hypomagnesemia, hypercalciuria, nephrocalcinosis, myopia and horizontal nystagmus. The hypomagnesemia was due to primary renal magnesium loss. He was diagnosed as having the syndrome of renal hypomagnesemia, hypercalciuria and nephrocalcinosis. This is a rare condition generally diagnosed by the first to third decades of life. Renal failure is common and end-stage renal disease can occur in children or young adults. The patient was treated with oral magnesium, chlorthalidone, potassium citrate and allopurinol and was followed up for 3 years. Treatment resulted in an improvement in hypercalciuria but serum magnesium level could not be normalized. The patient's renal function remains stable, with a mild degree of renal insufficiency.
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keywords = hypercalciuria
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5/21. FUO due to sarcoidosis-lymphoma syndrome.

    This is a patient who presented as a fever of unknown origin (FUO) due to sarcoidosis-lymphoma syndrome. In favor of sarcoidosis was an elevated angiotensin-converting enzyme level, hypercalciuria, and bilateral hilar adenopathy on chest x-ray and chest CT. CT-guided biopsy of a hilar node revealed B-cell lymphoma. The differential diagnosis of sarcoidosis versus lymphoma and sarcoidosis-lymphoma syndrome as a cause of fever of unknown origin is discussed in this article.
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keywords = hypercalciuria
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6/21. hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: further evidence for a putative gene on 4q.

    We report a newborn girl with a de novo terminal 4q deletion (q31.3 --> qter) and a characteristic phenotype of minor facial anomalies, cleft palate, congenital heart defect, abnormalities of hands and feet, and postnatal onset of growth deficiency. Laboratory studies showed excessive urinary calcium excretion on standard milk formula and on oral calcium load. Blood measurements of parathyroid hormone, calcitonin, bicarbonate, calcium, phosphorus, magnesium, sodium, chlorine, potassium, and urinary measurements of phosphorus, magnesium, sodium, chlorine, potassium were normal for age. At 2 months of life, ultrasonography showed kidney calcifications. Clinical and laboratory data support the diagnosis of absorptive hypercalciuria or abnormal regulation of calcium-sensing receptors in the renal tubules. The evidence of hypercalciuria and kidney calcifications associated with 4q terminal deletion strengthens the hypothesis that a putative gene for hypercalciuria is located on the terminal segment of chromosome 4q.
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ranking = 3
keywords = hypercalciuria
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7/21. Hyponatremic-hypertensive syndrome with extensive and reversible renal defects.

    Two young children with renal artery stenosis and severe hypertension who presented with the so-called hyponatremic-hypertensive syndrome (HHS), with marked urine and solute loss during the acute phase, are described. Both children also presented with severe high molecular proteinuria, glycosuria, and hypercalciuria, only the first symptom having prompt remission after normalization of blood pressure. In children with renal artery stenosis, HHS is associated with severe proteinuria due to hyperfiltration and more extensive tubular functional alterations. hyponatremia and acute tubulopathy may mask the presenting clinical picture of renal artery stenosis.
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keywords = hypercalciuria
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8/21. nephrocalcinosis in siblings--familial hypomagnesemia, hypercalciuria with nephrocalcinosis (FHHNC syndrome).

    Familial Hypomagnesemia, hypercalciuria with nephrocalcinosis is a rare autosomal recessive inherited disease associated with renal failure. Two girls born of consanguineous parentage aged 16 and 17 presented to us with renal failure, nephrocalcinosis and bone deformities. On evaluation they were found to have hypomagnesemia, hypercalciuria, increased fractional excretion of magnesium, hypocitraturia, renal failure and elevated PTH. Their parental screening was normal. There were no extra-renal features in them. One sibling had nephrolithiasis and the stone analysis revealed calcium phosphate stones. Both were treated with sodium bicarbonate, thiazides, calcitriol and calcium carbonate. They did not require dialysis during hospital stay. Both of them were treated conservatively. They are on regular outpatient follow up. The primary defect in this syndrome is impaired paracellular reabsorption of magnesium and calcium in the medullary thick ascending limb. Mutations in the PCLN-1gene which encodes for the tight junction protein paracellin -1 is identified as the underlying genetic defect. Ocular abnormalities and deafness are the commonly reported associations. End stage renal failure usually occurs in second to third decade. Renal transplantation is the definite treatment.
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ranking = 5
keywords = hypercalciuria
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9/21. Two cases of familial hypomagnesemia with hypercalciuria and nephrocalcinosis: dental findings.

    BACKGROUND: The authors describe dental and periodontal conditions of two Chinese sisters affected by familial hypomagnesemia with hypercalciuria and nefrocalcinosis (FHHNC). FHHNC is a rare syndrome, genetically investigated since 1999, transmitted as an autosomal recessive disease. It is related to a mutation of PCN-1 gene which encodes for a tight junction protein named paracellin. CASE REPORT: Oral examination of two Chinese patients showed marked enamel hypoplasia, acute gingivitis and periodontal bone loss and severe malocclusion. The literature does not report previous investigations about the dental conditions of FHHNC patients. The syndrome is not definitely described from the clinical point of view. CONCLUSION: Further researches are necessary to understand the linkage between bone loss and enamel structure anomalies in FHHNC and to discover the relationships between nefrocalcinosis, hypomagnesemia, hypercalciuria and amelogenesis imperfecta.
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ranking = 6
keywords = hypercalciuria
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10/21. Antacid-induced phosphate depletion syndrome presenting as nephrolithiasis.

    A 29-year-old insulin-dependent diabetic woman developed phosphate depletion, nephrolithiasis and bilateral ureteric obstruction due to antacid abuse. Unlike previous descriptions of chronic phosphate depletion, myalgia, weakness and bone pain were absent. Biochemical features included hypophosphataemia, hypercalciuria, hypophosphaturia, elevated plasma, 1,25-dihydroxyvitamin D and low plasma intact parathyroid hormone. These abnormalities were corrected when antacid ingestion was reduced and phosphate intake supplemented. We propose that phosphate depletion secondary to antacid abuse caused 1 alpha-hydroxylase activation and elevation of the plasma 1,25-dihydroxyvitamin D level, leading to marked hypercalciuria. Once diagnosed, antacid abuse is a readily reversible cause of hypercalciuria and renal stones. Moreover, antacid-induced phosphate depletion may present with nephrolithiasis in the absence of musculoskeletal symptoms. This report is intended to draw attention to this important cause of renal stone disease.
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ranking = 3
keywords = hypercalciuria
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