Idiopathic Inherited Hypercalciuria: Causes & Reasons

Possible Causes for Idiopathic Inherited Hypercalciuria

Background: Idiopathic hypercalciuria is an inherited metabolic abnormality characterised by excessive amounts of calcium excreted into the urine in patients with normal serum [cochrane.org]

Background: Idiopathic hypercalciuria is an inherited metabolic abnormality that is characterised by excessive amounts of calcium excreted in the urine by people whose calcium [cochrane.org]

Idiopathic hypercalciuria Inherited trait Thiazide diuretic*, potassium citrate† Primary hyperparathyroidism Increased bone demineralization or increased intestinal calcium [aafp.org]

Absorptive Hypercalciuria Type 1

Background: Idiopathic hypercalciuria is an inherited metabolic abnormality characterised by excessive amounts of calcium excreted into the urine in patients with normal serum [cochrane.org]

Background: Idiopathic hypercalciuria is an inherited metabolic abnormality that is characterised by excessive amounts of calcium excreted in the urine by people whose calcium [cochrane.org]

BACKGROUND: Idiopathic hypercalciuria is an inherited metabolic abnormality characterised by excessive amounts of calcium excreted into the urine in patients with normal serum [ncbi.nlm.nih.gov]

Absorptive Hypercalciuria Type 2

Background: Idiopathic hypercalciuria is an inherited metabolic abnormality characterised by excessive amounts of calcium excreted into the urine in patients with normal serum [cochrane.org]

Background: Idiopathic hypercalciuria is an inherited metabolic abnormality that is characterised by excessive amounts of calcium excreted in the urine by people whose calcium [cochrane.org]

Abstract Idiopathic hypercalciuria is a common disorder whose inheritance suggests an enzyme abnormality in calcium transport. [nejm.org]

Childhood Idiopathic Hypercalciuria

J.: Idiopathic hypercalciuria in children: prevalence and metabolic characteristics. J. Pediat. 92, 906–910 (1978) Google Scholar Nordin, B. E. C.: Hypercalciuria. Clin. [link.springer.com]

Epidemiology of inherited disorders of calcium/ phosphate metabolism (abstract). Pediat. Res. 10, 893 only (1976) Google Scholar Moore, E. S., Coe, F. L., McMann, B. [link.springer.com]

Idiopathic Inherited Hypercalciuria

BACKGROUND: Idiopathic hypercalciuria is an inherited metabolic abnormality that is characterised by excessive amounts of calcium excreted in the urine by people whose calcium [ncbi.nlm.nih.gov]

BACKGROUND: Idiopathic hypercalciuria (IH) is frequently associated with nephrolithiasis. [ncbi.nlm.nih.gov]

Nephrocalcinosis

Herein we will review clinical, biochemical, metabolic and genetic characteristics of the inherited diseases which lead to nephrolithiasis/nephrocalcinosis, such as: idiopathic [ncbi.nlm.nih.gov]

Hypercalciuria: Altered renal tubular handling - eg, idiopathic hypercalciuria, distal renal tubular acidosis (is associated with low urinary excretion of citrate), hypothyroidism [patient.info]

hypercalciuria, renal hypophosphatemia, renal tubular acidosis, idiopathic infantile hypercalcemia, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis [ncbi.nlm.nih.gov]

Staghorn Calculus

Idiopathic hypercalciuria Inherited trait Thiazide diuretic*, potassium citrate† Primary hyperparathyroidism Increased bone demineralization or increased intestinal calcium [aafp.org]

(more than 250 mg per 24 hours [6.2 mmol per day]) Absorptive hypercalciuria Increased intestinal absorption of calcium Thiazide diuretic*, potassium citrate (Urocit-K)† [aafp.org]

[…] day]) Idiopathic; renal tubular acidosis (types 1, 2, and 4) Potassium citrate† TABLE 4 Common Causes of Calcium Oxalate Calculi Abnormality Possible mechanism Treatments Hypercalciuria [aafp.org]

Hypercalcemic Nephropathy

inherited tubular disorders (eg, Bartter's syndrome and familial magnesium-losing nephropathy), and may follow intensive loop diuretic treatment in premature infants. [patient.info]

[…] nephrocalcinosis Hypercalcaemia : for example, diet, hyperparathyroidism, vitamin D excess, bone metastases, bone loss from chronic immobilisation and severe osteoporosis, sarcoidosis, idiopathic [patient.info]

Nephrolithiasis

Herein we will review clinical, biochemical, metabolic and genetic characteristics of the inherited diseases which lead to nephrolithiasis/nephrocalcinosis, such as: idiopathic [ncbi.nlm.nih.gov]

[14] In patients with idiopathic hypercalciuria and calcium-containing kidney stones, genetic screens of nephrolithiasis determinants have identified candidates involved [emedicine.medscape.com]

hypercalciuria, renal hypophosphatemia, renal tubular acidosis, idiopathic infantile hypercalcemia, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis [ncbi.nlm.nih.gov]

Renal Colic

[14] In patients with idiopathic hypercalciuria and calcium-containing kidney stones, genetic screens of nephrolithiasis determinants have identified candidates involved [emedicine.medscape.com]

[…] in seven recessive genes (AGXT, ATP6V1B1, CLDN16, CLDN19, GRHPR, SLC3A1, SLC12A1), one dominant gene (SLC9A3R1), and one gene (SLC34A1) with both recessive and dominant inheritance [emedicine.medscape.com]

Renal Pelvic Calculus

[14] In patients with idiopathic hypercalciuria and calcium-containing kidney stones, genetic screens of nephrolithiasis determinants have identified candidates involved [emedicine.medscape.com]

Renal Cortical Necrosis

inherited tubular disorders (eg, Bartter's syndrome and familial magnesium-losing nephropathy), and may follow intensive loop diuretic treatment in premature infants. [patient.info]

Ureterolithiasis

[14] In patients with idiopathic hypercalciuria and calcium-containing kidney stones, genetic screens of nephrolithiasis determinants have identified candidates involved [emedicine.medscape.com]

Retinitis

[14] In patients with idiopathic hypercalciuria and calcium-containing kidney stones, genetic screens of nephrolithiasis determinants have identified candidates involved [emedicine.medscape.com]

Hereditary Hypophosphatemic Rickets with Hypercalciuria

” hypercalciuria and hereditary hypophosphatemic rickets. [jasn.asnjournals.org]

N Engl J Med 312 : 611 -617, 1985 ↵ Tieder M, Modai D, Shaked U, Samuel R, Arie R, Halabe A, Maor J, Weissgarten J, Averbukh Z, Cohen N, Edelstein S, Lieberman UA: “Idiopathic [jasn.asnjournals.org]

In: The Metabolic and Molecular Basis of Inherited Disease, 7th Ed., edited by Scriver CR, Beaudet AL, Sly WS, Valle D, New York, McGraw Hill, 1995, pp 3717 -3745 ↵ Tenenhouse [jasn.asnjournals.org]

Autosomal Recessive Infantile Hypercalcemia

Méhes K et al. (1975) Possible dominant inheritance of the idiopathic hypercalcemic syndrome. [^] 2. [moldiag.com]

Symptoms Hypercalciuria Hypercalciuria is most likely due to elevated plasma calcium levels. Systematic References: 1. [moldiag.com]

Calculi

Idiopathic hypercalciuria Inherited trait Thiazide diuretic*, potassium citrate† Primary hyperparathyroidism Increased bone demineralization or increased intestinal calcium [aafp.org]

[14] In patients with idiopathic hypercalciuria and calcium-containing kidney stones, genetic screens of nephrolithiasis determinants have identified candidates involved [emedicine.medscape.com]

(more than 250 mg per 24 hours [6.2 mmol per day]) Absorptive hypercalciuria Increased intestinal absorption of calcium Thiazide diuretic*, potassium citrate (Urocit-K)† [aafp.org]

Familal Benign Hypercalcemia

[…] disease Bacteremia Familial hypocalciuric hypercalcemia 6 (dominant inheritance); the best test for familial benign hypercalciuria (FBH) is a plot of fasting serum PTH against [labcorp.com]

Idiopathic hypercalcemia of infancy (uncommon) Endocrine: hyperthyroidism, Addison disease, acromegaly, pheochromocytoma (rare cause of hypercalcemia) Advanced chronic liver [labcorp.com]

Hyperphosphatasia with Mental Retardation Type 4

– Idiopathic hypercalciuria. – Protein calorie malnutrition. – Hypophosphatasia. – Growth hormone deficiency. – Osteogenesis imperfecta. – Congenital heart disease. – Uraemic [atulchoube.wordpress.com]

MARFAN SYNDROME Inherited connective tissue disorder with musculoskeletal, ocular and cardiovascular manifestations. Condition is autosomal dominant. [atulchoube.wordpress.com]

Tibial-Metacarpal Chondrodysplasia Punctata

MARFAN SYNDROME Inherited connective tissue disorder with musculoskeletal, ocular and cardiovascular manifestations. Condition is autosomal dominant. [atulchoube.wordpress.com]

Neuhauser-Daly-Magnelli Syndrome

idiopathic dystrophy Sommer Young Wee Frye syndrome monosomy 3p14 p11 Neurodegeneration with brain iron Weber Klippel Trenaunay Chromosome 3 Hypercalciuria macular coloboma [yumpu.com]

2q duplication 1p Tetramelic monodactyly with Angiomyomatous Hamartoma Chromosomes 1 and 2 Hypokalemic alkalosis LINAD Pantothenate kinase-associated autosomal dominant inheritance [yumpu.com]

[…] syndrome Deletion 3p14 p11 Bartter syndrome neurodegeneration late infantile Neuroaxonal Sommer rathbun battles syndrome Angioosteohypertrophy syndrome Monosomy 3p14 p11 Hypercalciuria [yumpu.com]

Feigenbaum-Bergeron-Richardson Syndrome

idiopathic dystrophy Sommer Young Wee Frye syndrome monosomy 3p14 p11 Neurodegeneration with brain iron Weber Klippel Trenaunay Chromosome 3 Hypercalciuria macular coloboma [yumpu.com]

2q duplication 1p Tetramelic monodactyly with Angiomyomatous Hamartoma Chromosomes 1 and 2 Hypokalemic alkalosis LINAD Pantothenate kinase-associated autosomal dominant inheritance [yumpu.com]