Familial Hypophosphatemia (Phosphate Diabetes)

An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME.

Also Known As:

Networked: 487 relevant articles (5 outcomes, 23 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hypercalciuria
2.	Proteinuria
3.	Fanconi Syndrome (Syndrome, Fanconi)
4.	Hypophosphatemia
5.	Rickets (Rachitis)

Experts

1.	Wagner, Carsten A: 7 articles (01/2012 - 04/2004)
2.	Segawa, Hiroko: 6 articles (04/2014 - 01/2009)
3.	Miyamoto, Ken-ichi: 5 articles (04/2014 - 07/2009)
4.	Biber, Jürg: 5 articles (01/2012 - 04/2004)
5.	Wolf, Myles: 5 articles (01/2012 - 07/2005)
6.	Kumar, Rajiv: 5 articles (06/2007 - 06/2002)
7.	Murer, Heini: 4 articles (11/2008 - 04/2004)
8.	Mukhopadhyay, Satinath: 3 articles (04/2015 - 12/2012)
9.	Chowdhury, Subhankar: 3 articles (04/2015 - 12/2012)
10.	Ghosh, Sujoy: 3 articles (04/2015 - 12/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Familial Hypophosphatemia:

1.	PhosphorusIBA 02/01/1978 - "With elevation of the perfusate Pi, phosphaturia was significantly less, and absolute Pi reabsorption was significantly greater in kidneys derived from phosphorus-deprived rats than in organs from nondeprived counterparts. " 06/01/2015 - "One year after onset the hyperphosphaturia worsened, necessitating increasing oral phosphate supplements up to 100 mg/kg per day of elemental phosphorus. " 01/01/2012 - "Laboratory testing was remarkable for low serum phosphorus, phosphaturia, and significantly elevated serum FGF-23 level. " 11/01/1997 - "In conclusion, hypophosphataemia is frequently observed in alcoholic patients due to various pathophysiological mechanisms, such as inappropriate phosphaturia, increased phosphorus entry into cells and increased gastrointestinal loss of phosphate." 07/01/1995 - "Phosphate diabetes was defined as a phosphate clearance above 20 ml/mn, a rate for tubular reabsorption of phosphate above 80%, and a ratio of the maximal rate for tubular reabsorption of phosphorus over the glomerular filtration rate (TmP04/GFR) below 0.80 mmol/l. "
2.	Parathyroid Hormone (Parathormone)IBA 01/01/1988 - "The parathormone test revealed a marked decrease in phosphaturia response to PTH, but normal cAMP response. " 11/01/1982 - "Previous studies from this laboratory have demonstrated that a low ('physiological') dose of parathyroid hormone (PTH) effects a phosphaturia in chronically thyroparathyroidectomized (TPTX), hypocalcemic dogs, similar in magnitude to that seen in normal intact animals, without altering proximal tubular reabsorption. " 05/01/1975 - "The present study examined the importance of increased plasma parathyroid hormone concentration in the phosphaturia accompanying acute extracellular fluid volume expansion (ECVE). " 04/01/2014 - "Parathyroid hormone was elevated at 6 hours after PH. Hyperphosphaturia persisted, however, even after thyroparathyroidectomy in PH rats. " 03/01/2013 - "Twenty-two percent of men and 8% of women with normal parathyroid hormone had phosphaturia (excretion of phosphate corrected for glomerular filtration rate (TmPO4/GFR) < 0.70 mmol/L); 6% men and 1.6% women also had low plasma phosphate. "
3.	Urea (Carbamide)FDA LinkGeneric 11/01/1981 - "Urea-induced phosphaturia was mainly a result of decreased proximal phosphate reabsorption, with additional inhibition occurring beyond the proximal sampling site. " 09/01/1980 - "Hyperkaliuresis and hyperphosphaturia were due to activation of the secretory process in the kidney tubules, while the decrease in the excretion of urea was a consequence of a decrease in the filtration load of this substance and a decrease in the diffusion and secretory processes. " 01/01/2013 - "In diabetic mice GA treatment increases urinary Ca(2+) excretion, and decreases plasma phosphate concentration, plasma urea concentration, urinary flow rate, natriuresis, phosphaturia, glucosuria, proteinuria as well as blood pressure. " 07/01/1987 - "There has been no change in urea appearance, blood pressure, phosphaturia or proteinuria. " 08/01/1957 - "[Urinary urea, calciuria; uricosuria & phosphaturia in calculous urinary lithiasis]."
4.	Glucose (Dextrose)FDA LinkGeneric 06/01/2009 - "Glucose decreased phosphaturia in blacks. " 10/01/1997 - "The latter and the concurrent tubular overload of glucose are the cause of hyperphosphaturia in these animals." 01/01/1982 - "This decrease was not caused by glucose infusion or phosphaturia due to haemodilution and increase in extracellular volume. " 07/01/1978 - "The accumulated data suggest that excessive glucose ingestion by some patients with VDRR may add an additional insult to the phosphaturia characteristic of this disorder. " 07/01/1964 - "[ON THE MECHANISM OF HYPERPHOSPHATURIA DUE TO GLUCOSE ADMINISTRATION]."
5.	CreatinineIBA 05/01/2013 - "A distinct urinary metabolic profile characterized by glucosuria, phosphaturia, and aminoaciduria was identified preceding changes in serum creatinine. " 05/01/1990 - "Plasma creatinine levels, glucosuria and phosphaturia, and urinary concentrating capacity were adequate. " 01/01/1975 - "The highest increase in alpha-PLMW clearance was seen immediately after 5/6 nephrectomy, and the increased alpha-PLMW excretion in pigs with proximal tubular dysfunction was better correlated to creatinine clearance than to the degree of phosphaturia or glucosuria. " 05/01/1976 - "At the same times the creatinine clearances were 114 +/- 11, 80 +/- 6, and 64 +/- 6.3 ml/min. There was no evidence of a renal tubular abnormality as assessed by glycosuria, bicarbonaturia, or increased phosphaturia. " 06/01/2010 - "Laboratory investigations showed profound hypokalemia (1.6 mmol/L) with renal K wasting, hyperchloremic metabolic acidosis with positive urine anion gap, hypophosphatemia with hyperphosphaturia, hypouricemia with hyperuricosuria, normoglycemic glycosuria, and abnormal serum creatinine concentration 2.2 mg/dL. "
6.	Cholecalciferol (Vitamin D3)FDA Link 03/01/1997 - "Three of the four cases with phosphate diabetes failed to respond to pamidronate therapy but improved under phosphate and 1,25-diOH vitamin D3 therapy." 02/01/1989 - "We measured axial and appendicular bone mineral in 17 children (mean age 5.59 +/- 4.87) with familial hypophosphatemia at baseline and at 6-month intervals after initiation of therapy with vitamin D3 (calcitriol) and phosphate supplementation. " 08/01/2014 - "Oncogenic osteomalacia is caused by a small mesenchymal tumour characterised by phosphaturia, hypophosphatemia, decreased serum vitamin D3 level, and osteomalacia. " 01/01/2007 - "Oncogenic osteomalacia (OOM) is an uncommon disorder characterized by hyperphosphaturia, hypophosphatemia, decreased vitamin D(3) serum levels, and osteomalacia. " 01/01/1995 - "The patient had good renal function, a parathormone independent hyperphosphaturia, normal 25-OH cholecalciferol, increased urinary hydroxyproline, decreased osteocalcin, reduced bone density and a bone biopsy revealing osteomalacia. "
7.	Insulin (Novolin)FDA Link 01/01/1997 - "The postprandial changes in phosphaturia and insulin sensitivity were inversely correlated (n = 38, r = -0.44, P = 0.007). " 01/01/1997 - "ASC supplementation of the meal (in the RCU + ASC subgroup) normalized insulin, failed to normalize post-load phosphaturia, but reduced post-load glucosuria and urinary pH significantly (mean pH values 5.55 vs 5.93 in untreated RCU, controls 5.50). " 06/01/1985 - "Proteinuria, hypercalciuria, and hyperphosphaturia appeared as early as 3 days after diabetes induction and were reversed by insulin. " 10/01/1998 - "Effect of enalapril on proteinuria, phosphaturia, and calciuria in insulin-dependent diabetes." 05/01/1998 - "The individuals with dietary phosphate deprivation, evidenced by a significant reduction in phosphaturia from 232.3 +/- 37.1 to 56.8 +/- 23.9 mmol/24 hours, but with normal serum levels of inorganic phosphorus, presented circulating glucose and insulin levels similar to those of the pre-dietary period during the oral and intravenous glucose tolerance tests. "
8.	pamidronate (APD)FDA LinkGeneric 07/01/1995 - "Two recent reports of phosphate diabetes in pagetic patients prompted us to evaluate urinary phosphate and its variations under pamidronate therapy in Paget's disease of bone. " 03/01/1997 - "To clarify the relations between reflex sympathetic dystrophy syndrome and moderate phosphate diabetes, we prospectively determined urinary phosphate excretion parameters (clearance, renal tubular reabsorption of phosphate and threshold of tubular reabsorption of phosphate) in 37 patients with reflex sympathetic dystrophy syndrome before and after treatment with 60 mg of pamidronate (n = 23) and in 35 age- and sex-matched controls. " 03/01/1997 - "Three of the four cases with phosphate diabetes failed to respond to pamidronate therapy but improved under phosphate and 1,25-diOH vitamin D3 therapy." 12/01/2011 - "The treatment consisted in vitamin D supplementation, and high doses of both oral phosphate and calcitriol to treat the phosphate diabetes as well as cycles of intravenous pamidronate administration to relieve bone pain. "
9.	CalciumIBA 01/01/1954 - "[Study of the phosphaturia provoked after calcium perfusion, new parathyroid function test]." 09/01/2014 - "Urinary excretion of calcium and phosphate were assessed in a subgroup of 55 patients: on day 21 mcBTT positively correlated with phosphaturia, negatively with calciuria. " 11/01/1996 - "1,25-(OH)2-vitamin D did not correlate with phosphaturia relative to serum calcium concentrations within the patient and control groups. " 11/01/1996 - "Serum 1,25-(OH)2-vitamin D was higher in patients than controls and for any 1,25-(OH)2-vitamin D concentration phosphaturia measured against serum calcium was greater in patients than controls. " 11/01/1996 - "Patients also had notably greater phosphaturia compared with the serum calcium concentration for any given PTH value. "
10.	Vitamin DFDA LinkGeneric 12/01/2012 - "The elevated FGF-23 levels result in a negative P balance to maintain P homeostasis, inducing phosphaturia, independently of PTH, and suppressing vitamin D synthesis. " 01/01/2009 - "It has a central role in phosphate homeostasis regulation, producing phosphaturia, and in vitamin D metabolism, inhibiting its production by suppression of renal 1 Alfa hydroxylase. " 11/01/1995 - "Resistance to vitamin D is known since a long time but was erroneously ascribed to phosphate deficiency (phosphate diabetes or deficiency in tubular phosphate reabsorption). " 12/01/1985 - "In one case abnormalities of vitamin D metabolism were identical with those described in cases of phosphate diabetes associated with mesenchymal tumours. " 02/01/1980 - "These results suggest that any theory of the pathogenesis of this disorder must account for inappropriate renal vitamin D metabolism and for renal hyperphosphaturia. "

Therapies and Procedures

1.	Intravenous Infusions 12/16/1963 - "[INTRAVENOUS INFUSION OF CALCIUM IN THE STUDY OF HYPERPHOSPHATURIA IN RICKETS]." 09/01/2010 - "Increasing Klotho in the kidney and urine chronically by transgenic overexpression or acutely by intravenous infusion caused hypophosphatemia, phosphaturia from decreased proximal phosphate reabsorption, and decreased activity and protein of the principal renal phosphate transporter NaPi-2a. "
2.	Kidney Transplantation 06/01/2003 - "Hyperphosphaturia after kidney transplantation in syngeneic rats: effects on nephrocalcinosis and bone metabolism?" 09/01/2001 - "A non-PTH circulating serum factor (possibly phosphatonin) that increases FE(PO4) during CRF is also responsible for phosphaturia and hypophosphatemia in the early period following successful kidney transplantation. " 09/01/2001 - "Patients undergoing successful kidney transplantation often manifest overt hypophosphatemia associated with exaggerated phosphaturia during the early post-transplant period (2 weeks to 3 months). " 12/01/2013 - "Phosphate diabetes is defined as inadequate tubular phosphorus reabsorption leading to persistent renal phosphorus wasting, which is an important but overlooked cause of osteodystrophy in the post-renal transplantation population. " 01/01/1995 - "Two mechanisms can produce hypophosphatemia after a renal transplantation: a parathormone excess due to the previous renal failure, that disappears during the first year after the transplantation or a derangement in renal phosphate transport that can be due to a generalized proximal tubule solute transport derangement (Fanconi syndrome), parathormone hypersensitivity or to an "idiopathic" hyperphosphaturia. "
3.	Parathyroidectomy 07/01/1981 - "The phosphaturia observed in intact rats treated with BEA was abolished by parathyroidectomy. " 06/01/1990 - "After subtotal parathyroidectomy, the parathyroid hormone concentration became normal and the bone mineral content increased at the spine and hip, but inappropriate phosphaturia persisted. " 11/01/1985 - "It is known that parathyroidectomy, administration of parathyroid hormone (PTH), and dietary phosphate depletion or excess result in variations in phosphaturia and in phosphate transport through brush border membrane vesicles isolated from the kidneys of various animals. " 02/01/1957 - " II. Effect of parathyroidectomy on changes in diuresis, phosphaturia and calciuria induced in rats by oral administration of pentobarbital]."
4.	Transplantation (Transplant Recipients) 12/01/2013 - "A case of severe osteomalacia secondary to phosphate diabetes in a renal transplant recipient." 01/01/1987 - "We believe that increased phosphaturia in diabetics with moderate chronic renal failure may be a major factor in precluding the appearance of secondary hyperparathyroidism in these patients once they reach the dialysis and transplantation programs." 04/01/2014 - "The estimates were adjusted for age, gender, serum calcium, serum phosphate, diabetes mellitus, cardiovascular disease, and time on dialysis prior to transplantation. " 01/01/1995 - "Two mechanisms can produce hypophosphatemia after a renal transplantation: a parathormone excess due to the previous renal failure, that disappears during the first year after the transplantation or a derangement in renal phosphate transport that can be due to a generalized proximal tubule solute transport derangement (Fanconi syndrome), parathormone hypersensitivity or to an "idiopathic" hyperphosphaturia. "
5.	Denervation 06/26/2007 - "Denervation of the kidney does not attenuate phosphaturia elicited after intestinal phosphate administration. " 03/20/1995 - "Acute renal denervation produced a greater phosphaturia compared to the innervated kidney during the control period in the two normocanic groups but not in the hypocapnic group. " 06/01/2003 - "Basic physiological research in short-term experiments has shown that experimental renal denervation in rats leads to parathormone (PTH)-independent hyperphosphaturia (HPU). "