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: 721 relevant articles (15 outcomes, 32 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Proteinuria
2.	Hypophosphatemia
3.	Rickets (Rachitis)
4.	Glycosuria
5.	Acidosis

Experts

1.	Wagner, Carsten A: 9 articles (01/2021 - 04/2004)
2.	Segawa, Hiroko: 7 articles (10/2020 - 01/2009)
3.	Wolf, Myles: 7 articles (11/2017 - 07/2005)
4.	Biber, Jürg: 6 articles (03/2017 - 04/2004)
5.	Moe, Orson W: 6 articles (12/2012 - 04/2005)
6.	Kumar, Rajiv: 6 articles (06/2007 - 06/2002)
7.	Jüppner, Harald: 5 articles (01/2020 - 04/2003)
8.	Miyamoto, Ken-ichi: 5 articles (04/2014 - 07/2009)
9.	Ortiz, Alberto: 4 articles (01/2020 - 08/2011)
10.	Rodriguez, Mariano: 4 articles (01/2020 - 07/2010)

Drugs and Biologics

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

1.	Phosphates (Orthophosphate)IBA 11/10/2023 - "Though most recognised disorders of phosphaturia are genetic in origin, phosphate loss due to acquired conditions is commonly encountered in clinical practice. " 01/01/2023 - "Hepatic phosphate uptake and subsequent nerve-mediated phosphaturia are crucial for phosphate homeostasis following portal vein passage of phosphate in rats." 06/01/2022 - "Postoperatively, there was a significant decrease in phosphaturia, normalization of serum phosphate, 1.25 dihydroxyvitamin D and plasma FGF23 concentration. " 01/01/2022 - "The collective observations from these investigations implicate phosphaturia, and the resulting formation of phosphate-based crystals in tubular fluid, as unique risk factors for kidney function decline. " 09/01/2021 - "All patients had hyperphosphaturia [median fractional excretion of phosphate 24.2% (IQR 20.8-26.9), normal range <20%] as well as relative hypophosphataemia, with a median serum phosphate concentration of 0.93 mmol/L (IQR 0.83-0.97). "
2.	Phosphorus (Red Phosphorus)IBA 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. " 02/01/2018 - "Recent studies have shown a lower mortality compared with thrice-weekly-dialysis and a neutral input/output balance of phosphorus pool due to the phosphaturia contribution compared to the thrice-weekly-patients who lose early their FRR. " 01/01/2020 - "Thus, higher FGF23 levels were needed to maintain phosphaturia and normal serum phosphorus values. " 01/01/2012 - "Laboratory testing was remarkable for low serum phosphorus, phosphaturia, and significantly elevated serum FGF-23 level. " 04/01/1992 - "The hypophosphatemic patients had a significant lowering of renal phosphorus threshold (P = 0.005) and inappropriate phosphaturia. "
3.	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. " 10/01/1998 - "4. In further experiments in TPTX rats, Li+ administration inhibited the usual reduction in urine Ca2+ and Mg2+ excretion following parathyroid hormone (PTH) administration and inhibited the phosphaturia. "
4.	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. " 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. " 09/01/1970 - "Vitamin D metabolism and its relationship to familial hypophosphatemia." 02/01/1968 - "Parathyroid-dependent phosphaturia and aminoaciduria in the vitamin D-deficient rat."
5.	Urea (Carbamide)FDA LinkGeneric 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. " 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]." 09/01/1989 - "The improvement of some indices (an increase in glomerular filtration, urea excretion with urine and relative urine density, and a decrease in hypercalciuria and hyperphosphaturia) indicated the effectiveness of surgical intervention for primary hyperparathyroidism in patients with bilateral nephrolithiasis. " 11/01/1999 - "TQ significantly improved IFO-induced phosphaturia, glucosuria, elevated serum creatinine and urea, and significantly normalized creatinine clearance rate. "
6.	Uric Acid (Urate)IBA 09/01/1978 - "Nine patients (53%) developed proximal renal tubular dysfunction with aminoaciduria, hyperphosphaturia and incomplete reabsorption of urate. " 01/01/1974 - "Aminoaciduria, phosphaturia, increased urate excretion, hyposthenuria, proteinuria, and metabolic acidosis were demonstrated at one year of age. " 02/01/2011 - "Laboratory examination revealed normoglycemic glucosuria, proteinuria, normal anion-gap metabolic acidosis, phosphaturia, urinary uric acid wasting and kaliuresis leading to hypokalemia. " 06/01/1973 - "In separate studies, PZA depressed urate excretion by at least 68% during the maintenance of chlorothiazide-induced natriuresis and phosphaturia, suggesting that chlorothiazide does not diminish the anti-secretory action of PZA. " 05/01/2015 - "Calciuria, uricosuria and phosphaturia, oxalate calcium, brushite and uric acid saturations were higher in lithiasic children. "
7.	25-hydroxyvitamin DIBA 01/01/1988 - "Study of the 1 alpha-hydroxylation of 25-hydroxyvitamin D in phosphate diabetes." 01/01/2006 - "The phosphatonin, secreted frizzled-related protein-4 (sFRP-4), induces phosphaturia and inhibits 25-hydroxyvitamin D 1alpha-hydroxylase activity normally induced in response to hypophosphatemia. " 04/01/2015 - "Laboratory investigations revealed hypophosphatemia, hyperphosphaturia, normocalcemia, elevated alkaline phosphatase and normal serum levels of parathormone and 25-hydroxyvitamin D. " 01/01/2015 - "Laboratory investigations revealed hypophosphatemia, hyperphosphaturia, normocalcemia, elevated alkaline phosphatase, and normal serum levels of parathormone and 25-hydroxyvitamin D. " 03/01/2013 - "The three affected siblings had biochemical features of hereditary hypophosphataemic rickets with hypercalciuria (HHRH) with normal plasma calcium and 25-hydroxyvitamin D concentrations, elevated 1,25-dihydroxyvitamin D, hypophosphataemia, hyperphosphaturia and hypercalciuria. "
8.	Calcitriol (Calcijex)FDA LinkGeneric 01/01/2022 - "The use of TPTD 20 mcg twice daily in a patient with genetic resistance to FGF23 (HFTC) was associated with consistent increase in phosphaturia and reduction in phosphatemia, in addition to an increase in calcitriol. " 01/01/2021 - "Female mice, as male mice, showed higher intact FGF23 levels but no phosphaturia, and higher calcitriol and lower PTH levels in plasma. " 11/01/2013 - "FGF-23 is produced by osteocytes and osteoblasts and acts physiologically in the kidney to induce phosphaturia and inhibit the synthesis of 1,25-dihydroxyvitamin D3. " 01/01/2012 - "FGF23 promotes phosphaturia and decreases production of calcitriol. " 11/01/2009 - "FGF23 promotes phosphaturia and decreases production of calcitriol. "
9.	Hormones (Hormone)IBA 05/01/1995 - "This putative factor is distinct from other hormones that cause phosphaturia." 03/01/1995 - "PTH-induced phosphaturia is exerted in part by cAMP added to the renal tubular lumen under the influence of the hormone. " 07/01/1989 - "The attenuated phosphaturia may reflect an inability of the neonate to respond to the hormone because of functional immaturity of the developing kidney. " 08/01/1984 - "They also suggest that the nephron site mediating anticalciuria behaves differently with respect to hormone-receptor interactions from those sites mediating phosphaturia." 02/01/2004 - "Dose-dependent hypophosphatemia and hyperphosphaturia occurred in mice following intraperitoneal (IP) administration of Hu-MEPE (up to 400 microg kg(-1) 31 h(-1)), similar to mice given the phosphaturic hormone PTH (80 microg kg(-1) 31 h(-1)). "
10.	CreatinineIBA 03/01/2017 - "Intravenous Pi loading (0.5 mmol) caused a transient rise in plasma Pi levels and creatinine clearance and an increase in phosphaturia within 10 minutes. " 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. "

Therapies and Procedures

1.	Therapeutics 07/01/1976 - "These results are in accordance with the positive results obtained with the oral replacement therapy in familial hypophosphatemia." 11/13/2018 - "Women have enhanced bone loss associated with phosphaturia and CD4+ cell restoration during initial antiretroviral therapy." 01/01/2016 - "Chronic abnormal phosphaturia explains, at least in part, progressive bone loss during TDF therapy. " 01/01/2008 - "The treatment of phosphate diabetes and hyperphosphatasia requires an interdisciplinary therapy concept between paediatricians and orthopaedic surgeons. " 11/01/1968 - "[X-ray changes in phosphate diabetes undergoing therapy]."
2.	Renal Dialysis (Hemodialysis) 01/01/2017 - "Residual renal function (RRF) and phosphaturia had not stimulated particular interest in studies regarding patients on hemodialysis. " 01/01/2017 - "[The Power of Phosphaturia in the Infrequent Hemodialysis]." 01/01/2017 - "During 6 months, the Authors have conducted forty urine collections in 10 patients on twice a week hemodialysis (TWH) (age: 69,3 years, dialysis vintage: 42,7 months and 40.9 months on TWH) and eighty urine collections in 8 patients on once a week hemodialysis and low-protein diet (CDDP) (age: 69.6 years, dialysis vintage: 24.7 months and 24 months in CDDP) to determine RRF and phosphaturia. " 06/01/2017 - "During evaluation of patients on infrequent hemodialysis (ID) as both as once-weekly or twice-weekly hemodialysis it has been frequently underestimated the importance of phosphaturia, Indeed, the native kidney preserves the ability to eliminate not only toxic molecules but also a significative output of phosphate despite of a severe decrease of RKF. " 01/01/2017 - "The Authors have carried out a study of the phosphate balance in patients on infrequent hemodialysis with the hypothesis that the phosphaturia was always neglected in hemodialysis patients, but it could represent a positive impact element on the cardiovascular events and mortality in hemodialysis. "
3.	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. "
4.	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. "
5.	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. " 02/01/1957 - " II. Effect of parathyroidectomy on changes in diuresis, phosphaturia and calciuria induced in rats by oral administration of pentobarbital]." 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. "