Manz syndrome

Polyuria, nystagmus and recurrent episodes of tetany with radiological evidence of rickets and nephrocalcinosis

Also Known As:

Familial hypomagnesemia - hypercalciuria

Networked: 7 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Nephrocalcinosis
2.	Nephrolithiasis
3.	Renal Tubular Acidosis (Distal Renal Tubular Acidosis)
4.	Hypercalciuria
5.	Renal Insufficiency (Renal Failure)

Experts

1.	Akhtar, Naureen: 2 articles (01/2011 - 06/2006)
2.	Albanna, Amr S: 1 article (01/2022)
3.	Alhasan, Khalid A: 1 article (01/2022)
4.	Kari, Jameela A: 1 article (01/2022)
5.	Qari, Faiza A: 1 article (01/2022)
6.	Shalaby, Mohamed A: 1 article (01/2022)
7.	Goldaracena-Tanco, B: 1 article (12/2018)
8.	Plaza-Ramos, P: 1 article (12/2018)
9.	Tabuenca-Del Barrio, L: 1 article (12/2018)
10.	Zubicoa-Eneriz, A: 1 article (12/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Manz syndrome:

1.	dirhodium tetraacetate (DRTA)IBA 01/01/2022 - "To study childhood nephrolithiasis and nephrocalcinosis caused by metabolic disorders, distal renal tubular acidosis (dRTA), and familial hypomagnesemia, hypercalciuria, and nephrocalcinosis (FHHNC). "
2.	MagnesiumIBA 06/01/2006 - "We report a case of a rare inherited tubular disorder of linked transport of magnesium and calcium at the level of ascending limb of loop of Henle, characterized by hypomagnesemia, hypercalciuria and nephrocalcinosis, known as "Manz syndrome," who presented with polyuria, nystagmus and recurrent episodes of tetany with radiological evidence of rickets and nephrocalcinosis." 08/01/2002 - "Familial hypomagnesemia, hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive inherited disorder that has recently been attributed to a defect in the paracellin-1 ( PCLN-1)gene, encoding for a protein responsible for the tubular reabsorption of magnesium and calcium. " 01/01/2001 - "We describe an 8-year-old girl with cardinal findings of familial hypomagnesemia-hypercalciuria (hypomagnesemia, hypermagnesiuria, hypercalciuria, renal insufficiency, hyperuricemia, elevated serum parathormone, hyposthenuria and nephrocalcinosis), who received combination therapy consisting of magnesium salts, thiazide diuretic and potassium supplementation. "
3.	CalciumIBA 06/01/2006 - "We report a case of a rare inherited tubular disorder of linked transport of magnesium and calcium at the level of ascending limb of loop of Henle, characterized by hypomagnesemia, hypercalciuria and nephrocalcinosis, known as "Manz syndrome," who presented with polyuria, nystagmus and recurrent episodes of tetany with radiological evidence of rickets and nephrocalcinosis." 08/01/2002 - "Familial hypomagnesemia, hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive inherited disorder that has recently been attributed to a defect in the paracellin-1 ( PCLN-1)gene, encoding for a protein responsible for the tubular reabsorption of magnesium and calcium. " 12/01/2005 - "It may also be related to an increase in calcium absorption (vitamin D excess, primary hyperparathyroidism, sarcoidosis, lymphoma, estrogens, and certain genetic causes), an increase in osteoresorption (bone metastasis, myeloma, Paget, hyperthyroidism, immobilization, hypercortisolism and corticosteroid therapy), or a decrease of kidney tubular resorption (diuretics, Cacci and Ricci, acromegally, Bartter, familial dominant hypocalcemia, Fanconi, Dent, familial hypomagnesemia-hypercalciuria syndrome, type 1 distal tubular acidosis, pseudohypoaldosteronism, diabetes). "
4.	Tight Junction ProteinsIBA 12/26/2018 - "Michaelis-Manz syndrome is an autosomal recessive hereditary tubulopathy associated with mutations in the tight-junction proteins claudin-16 and claudin-19, which are present in the distal convoluted tubule and the loop of Henle in the kidney. "
5.	ClaudinsIBA 01/01/2011 - "Mutation in the tight-junction gene claudin 19 (CLDN19) and familial hypomagnesemia, hypercalciuria, nephrocalcinosis (FHHNC) and severe ocular disease."
6.	Sodium Chloride Symporter Inhibitors (Diuretics, Thiazide)IBA 01/01/2001 - "We describe an 8-year-old girl with cardinal findings of familial hypomagnesemia-hypercalciuria (hypomagnesemia, hypermagnesiuria, hypercalciuria, renal insufficiency, hyperuricemia, elevated serum parathormone, hyposthenuria and nephrocalcinosis), who received combination therapy consisting of magnesium salts, thiazide diuretic and potassium supplementation. "
7.	ThiazidesIBA 01/01/2001 - "To our knowledge, this is the first report of a child with familial hypomagnesemia-hypercalciuria who developed pseudotumor cerebri after thiazide therapy."
8.	Vitamin D FDA LinkGeneric 12/01/2005 - "It may also be related to an increase in calcium absorption (vitamin D excess, primary hyperparathyroidism, sarcoidosis, lymphoma, estrogens, and certain genetic causes), an increase in osteoresorption (bone metastasis, myeloma, Paget, hyperthyroidism, immobilization, hypercortisolism and corticosteroid therapy), or a decrease of kidney tubular resorption (diuretics, Cacci and Ricci, acromegally, Bartter, familial dominant hypocalcemia, Fanconi, Dent, familial hypomagnesemia-hypercalciuria syndrome, type 1 distal tubular acidosis, pseudohypoaldosteronism, diabetes). "
9.	SaltsIBA 01/01/2001 - "We describe an 8-year-old girl with cardinal findings of familial hypomagnesemia-hypercalciuria (hypomagnesemia, hypermagnesiuria, hypercalciuria, renal insufficiency, hyperuricemia, elevated serum parathormone, hyposthenuria and nephrocalcinosis), who received combination therapy consisting of magnesium salts, thiazide diuretic and potassium supplementation. "
10.	Proteins (Proteins, Gene)FDA Link 08/01/2002 - "Familial hypomagnesemia, hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive inherited disorder that has recently been attributed to a defect in the paracellin-1 ( PCLN-1)gene, encoding for a protein responsible for the tubular reabsorption of magnesium and calcium. "

Therapies and Procedures

Therapeutics

01/01/2001 - "To our knowledge, this is the first report of a child with familial hypomagnesemia-hypercalciuria who developed pseudotumor cerebri after thiazide therapy."
01/01/2001 - "We describe an 8-year-old girl with cardinal findings of familial hypomagnesemia-hypercalciuria (hypomagnesemia, hypermagnesiuria, hypercalciuria, renal insufficiency, hyperuricemia, elevated serum parathormone, hyposthenuria and nephrocalcinosis), who received combination therapy consisting of magnesium salts, thiazide diuretic and potassium supplementation. "
12/01/2005 - "It may also be related to an increase in calcium absorption (vitamin D excess, primary hyperparathyroidism, sarcoidosis, lymphoma, estrogens, and certain genetic causes), an increase in osteoresorption (bone metastasis, myeloma, Paget, hyperthyroidism, immobilization, hypercortisolism and corticosteroid therapy), or a decrease of kidney tubular resorption (diuretics, Cacci and Ricci, acromegally, Bartter, familial dominant hypocalcemia, Fanconi, Dent, familial hypomagnesemia-hypercalciuria syndrome, type 1 distal tubular acidosis, pseudohypoaldosteronism, diabetes). "