PedAM

Pediatric Disease Annotations & Medicines

Disease	nephrocalcinosis
Symptom	C0151723\|hypomagnesemia
Sentences	26
PubMedID- 22422540	Background and objectives: familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal tubular disease.
PubMedID- 21283935	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.
PubMedID- 21791920	Background/aims: familial hypomagnesemia with hypercalciuria and nephrocalcinosis (fhhnc) is a rare renal tubular disorder complicated by progressive renal failure during childhood or adolescence.
PubMedID- 26136118	Conclusions: this study provides the first report of a large homozygous deletion in the cldn16 gene causing familial hypomagnesemia with hypercalciuria and nephrocalcinosis with late onset of the first symptoms.
PubMedID- 23389821	The most common tubulopathies are distal renal tubular acidosis (22.5 %) and classical bartter syndrome (19.3 %) followed by familial hypomagnesemia with hypercalciuria and nephrocalcinosis (15.7 %) and gitelman syndrome (15 %).
PubMedID- 21633858	Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in three siblings having the same genetic lesion but different clinical presentations.
PubMedID- 23301036	Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (fhhnc; mim #248250) is an autosomal recessive tubular disease characterized by renal magnesium and calcium wasting 1.
PubMedID- 24665375	For example, cldn2 forms paracellular channels that inhibit passage of anions but permit passage of cations and water.3 depletion of one type of cldn in mice causes various abnormalities,4 and mutations of cldns in humans result in various genetic diseases, including neonatal ichthyosis and sclerosing cholangitis (nisch) syndrome as well as familial hypomagnesemia with hypercalciuria and nephrocalcinosis (fhhnc) syndrome.5 therefore, cldns are essential for maintaining homeostasis as they provide barriers functions in epithelial tissues and regulate paracellular permeability.
PubMedID- 23538362	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.
PubMedID- 22734304	Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (fhhnc) is an autosomal recessive syndrome that affects the tight junction proteins claudin-16 and claudin-19 in the thick ascending limb.
PubMedID- 25182135	Clinical utility gene card for: familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement.
PubMedID- 25410674	Background: familial hypomagnesemia with hypercalciuria and nephrocalcinosis (fhhnc) is an autosomal recessive tubular disease caused by mutations in the cldn16 or cldn19 gene.
PubMedID- 21848011	A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets.
PubMedID- 23760058	Mutations in these proteins impair ca2+ reabsorption and cause the autosomal recessive familial hypomagnesemia with hypercalciuria and nephrocalcinosis 6.
PubMedID- 23334384	Adenine phosphoribosyltransferase (aprt) deficiency, cystinuria, dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis (fhhnc), and primary hyperoxaluria (ph) are rare but important causes of severe kidney stone disease and/or chronic kidney disease in children.
PubMedID- 25366522	Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal disease caused by mutations in genes for the tight junction transmembrane proteins claudin-16 (cldn16) and claudin-19 (cldn19).
PubMedID- 23991001	Another example is familial hypomagnesemia associated with hypercalciuria and nephrocalcinosis (mutations in claudin16) .
PubMedID- 23455761	Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (fhhnc, omim no.
PubMedID- 21717354	Mutations in the cldn16 gene have been identified in patients suffering from familial hypomagnesemia with hypercalciuria and nephrocalcinosis, with excessive renal wastage of mg2+ and ca2+ being a hallmark of this condition.
PubMedID- 22162632	Various mutations in claudin-16 gene are seen in patients of familial hypomagnesemia with hypercalciuria and nephrocalcinosis, an autosomal recessive disease with severe mg2+ and ca2+ wasting .
PubMedID- 24339795	Cldn16, encoding claudin-16/paracellin-1, and cldn19, encoding claudin-19, are mutated in recessive familial hypomagnesemia with hypercalciuria and nephrocalcinosis .
PubMedID- 25555744	First report of a novel missense cldn19 mutations causing familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a chinese family.
PubMedID- 24665398	The coordinate interaction between claudin-16 and claudin-19 provides another example of heteromer driven functionality, since mutations in either of these two claudins cause the renal disease familial hypomagnesemia with hypercalciuria and nephrocalcinosis (fhhnc).40,41 claudin-16 and claudin-19 hetero-oligomerize to form sodium-selective tight junction pores which provides an indirect mechanism for regulation of magnesium resorption.42,43 critically, transport of claudin-16 and claudin-19 are mutually dependent.
PubMedID- 22731731	Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (fhhnc) is a rare tubular disorder caused by mutations in genes coding for tight junction (tj) proteins.
PubMedID- 21186073	Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (fhhnc) is an autosomal recessive renal tubular disorder that typically presents with disturbances in magnesium and calcium homeostasis, recurrent urinary tract infections, and polyuria and/or polydipsia.
PubMedID- 23799361	Mutations in the claudin genes, claudin-16 and claudin-19, cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis (fhhnc) .

Page: 1