Bartter syndrome in a neonate: early treatment with indomethacin
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Keywords:
Polyuria
Bartter syndrome
Nephrocalcinosis
Polyhydramnios
An additional case of Bartter syndrome is reported, along with its metabolic and clinical features. Emphasis is laid on the concept that an early diagnosis may improve the clinical outcome of the disease, thanks to the prompt use of indomethacin therapy which is capable of preventing hypercalciuria and nephrocalcinosis.
Nephrocalcinosis
Bartter syndrome
Bartter's syndrome
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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare tubulopathy characterized by renal loss of calcium and magnesium leading to progressive renal failure. The disorder is caused by variants to the tight junction proteins claudin-16 and -19. While rare, this disorder causes a significant burden to patients based on its clinical manifestations of various electrolyte abnormalities, nephrocalcinosis, and early progression to renal failure. In this report we describe the diagnosis of a novel variant of CLDN16 which clinically presented with severe hypomagnesemia, hypocalcemia, nephrocalcinosis, and renal failure.
Nephrocalcinosis
Tubulopathy
Magnesium deficiency (plants)
Hypophosphatemia
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Hypercalciuria has become a significant clinical focus both for pediatricians and for pediatric nephrologists after it was found that increased urinary calcium excretion is the most common abnormality in children with nonglomerular hematuria and with nephrolithiasis. The question of long-term implications of hypercalciuria in growing children, regardless of the underlying cause, remains unanswered. Whether dietary or pharmacologic therapy is warranted in children with hypercalciuria is controversial. One of the proposed consequences of hypercalciuria is nephrocalcinosis. With the availability of increasingly sensitive, noninvasive imaging techniques, nephrocalcinosis is being recognized more frequently. In some instances, concern about the risk and progression of nephrocalcinosis is provoking reevaluation of well-established metabolic therapies. New urinary inhibitors of crystal formation and aggregation have recently been identified. As the basic pathogenesis of nephrocalcinosis becomes clearer, clinical therapies will become more specific and effective.
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Urinary stone
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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder that is caused by mutation in the genes coding for tight junction proteins Claudin-16 and Claudin-19. Affected individuals usually develop nephrocalcinosis and progressive renal failure; some of them may have ophthalmologic involvement as well. Phenotypic description of three affected individuals from the same Middle Eastern kindred (two sisters and their cousin) is presented. This includes both clinical and laboratory findings upon initial presentation and subsequent follow-up. Molecular analysis of the CLDN19 gene was performed on the three cases and one set of parents. A novel homozygous missense mutation in CLDN19 (c.241C>T, p.Arg81Cys) was detected in all three affected children. The parents were heterozygous. Clinical and laboratory data in the three children with renal and ocular manifestations of FHHNC are described. Genetic analysis revealed a novel mutation in the CLDN19 gene. FHHNC is a rare cause of nephrocalcinosis, and we believe that it should be considered in the presence of nephrocalcinosis with hypercalcuria and hypermagnesuria.
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Abstract Background Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis is a rare tubulopathy leading to renal calcification and progressive renal failure. Case presentation We report a consanguineous Arab family (of Qatari origin) with 7 affected siblings with variable phenotypes including hypomagnesaemia, hypercalciuria, nephrocalcinosis and renal stones. Presenting features included haematuria and recurrent urinary tract infections. As the biochemical and clinical phenotypes of this family resembled familial hypomagnesaemia with hypercalciuria and nephrocalcinosis, we performed genetic investigation in order to provide a precise molecular diagnosis. We screened all coding regions of the CLDN16 gene and identified a novel mutation (c.G647A, p.R216H) which was found homozygously in the six severely affected cases, who manifested significant nephrocalcinosis, often nephrolithiasis and sometimes reduced GFR. Parents were both heterozygous for the mutation and, together with children carrying the mutation in its heterozygous state, exhibited mild or no biochemical phenotypes. Conclusion Mutations in CLDN16 underlie familial hypomagnesaemia with hypercalciuria and nephrocalcinosis but remain a rare cause of nephrocalcinosis and nephrolithiasis. Management includes reduction of hypercalciuria with thiazide diuretics, correction of serum magnesium and close monitoring of renal function given the significant risk of end stage renal failure with this inherited form of nephrocalcinosis.
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Abstract Purpose: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal-recessive renal tubular disorder. FHHNC is characterized by renal wasting of magnesium (Mg) and calcium (Ca), which subsequently leads to bilateral nephrocalcinosis, renal stones, and chronic renal failure. Here, we report seven patients with FHHNC. Methods: We retrospectively analyzed pediatric cases of FHHNC between 2010-2020. Results: A total of 7 patients, 5 girls (71.4 %) and 2 boys (28.5 %) with a median age of 4 years (min:4 months, max:13 years) and a mean follow-up time of 4.4±3.5 years were included. 3 patients had been diagnosed incidentally. All of the patients had nephrocalcinosis, hypercalciuria and high PTH level. One patient had hypocalcemia and one patient had normal serum magnesium level. All patients had high urine FEMg. Five patients had CLDN 16 mutation, and two patients had CLDN19 mutation. None of them had ocular findings. Three patients had chronic renal failure at the end of the follow-up. Conclusions: We want to draw attention to the FHHNC in children with nephrocalcinosis. FHHNC should be considered in children with normal serum magnesium levels since a normal serum magnesium level does not rule out FHHNC, and high FEMg levels are more significant for the diagnosis.
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Magnesium deficiency (plants)
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A 12 year old boy presented with primary nocturnal enuresis. Investigation showed extensive bilateral nephrocalcinosis of no obvious or recognised cause. Persistent severe renal hypercalciuria was confirmed by an intravenous calcium infusion. Idiopathic hypercalciuria is not a common cause of nephrocalcinosis and has not previously been described in a child.
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Ope n Pe e r Re v ie w on Qe ios Ope n Pe e r Re v ie w on Qe ios Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement INSERM Source
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Patients with mutations in Cldn16 suffer from familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) which can lead to renal insufficiency. Mice lacking claudin-16 show hypomagnesemia and hypercalciuria, but no nephrocalcinosis. Calcium oxalate and calcium phosphate are the most common insoluble calcium salts that accumulate in the kidney in the case of nephrocalcinosis, however, the formation of these salts is less favored in acidic conditions. Therefore, urine acidification has been suggested to limit the formation of calcium deposits in the kidney. Assuming that urine acidification is causative for the absence of nephrocalcinosis in the claudin-16-deficient mouse model, we aimed to alkalinize the urine of these mice by the ablation of the subunit B1 of the vesicular ATPase in addition to claudin-16. In spite of an increased urinary pH in mice lacking claudin-16 and the B1 subunit, nephrocalcinosis did not develop. Thus, urinary acidification is not the only factor preventing nephrocalcinosis in claudin-16 deficient mice.
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Urinary calcium
Hypophosphatemia
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Nephrocalcinosis in children can arise due to a variety of metabolic conditions and appropriate diagnosis can lead to specific management and has implications in prognosis. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare disease with varied manifestations which is caused by mutations in CLDN16 and CLDN19, and has a high rate of progression to kidney failure in the second to third decades of life. Early diagnosis aids in retardation of the progression to kidney failure. We present two unrelated patients presenting with nephrocalcinosis and deranged renal function, who had a novel pathogenic variation (c.685C > T; p.Q229X), leading to the diagnosis of FHHNC. Genetic testing is crucial in patients presenting with nephrocalcinosis for diagnosis and prognostication.
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