191:
405:), while females have two X chromosomes, the inheritance of phosphate diabetes largely depends on the gender of the parent who carries the mutated gene. Affected fathers with phosphate diabetes are unable to pass the disease to their sons, but all of their daughters will be affected. In contrast, affected mothers with phosphate diabetes will pass the disease to half of their sons and half of their daughters statistically. Thus, this disorder most often occurs in females.
251:
381:
101:
131:
49:(phosphate regulating endopeptidase X-linked) gene, which encodes for a protein that regulates phosphate levels in the human body. phosphate is an essential mineral which plays a significant role in the formation and maintenance of bones and teeth, energy production and other important cellular processes. phosphate diabetes is a condition that falls under the category of
311:, which is an important site for nutrient absorption. This transporter facilitates the absorption of phosphate from digested food in the small intestines into the bloodstream. Therefore, reduced activity of the transporter would lower the amount of phosphate being absorbed into the blood, which in turn increases the amount of phosphate excreted in the faeces.
284:(NaPi-2a and NaPi-2c) in the proximal tubules. As these co-transporters are responsible for reabsorbing phosphate from urine back into the bloodstream, a decrease in their expression would reduce the amount of phosphate being reabsorbed back to blood, hence increasing the phosphate concentration in the urine being excreted (
271:
An occurrence of PHEX gene mutation can lead to an increase in levels of fibroblast growth factor 23 (FGF23), which is a growth factor that regulates phosphate and vitamin D metabolism. Increased levels of FGF23 leads to increase renal phosphate excretion and decrease intestinal phosphate absorption:
371:
Due to the increased phosphate loss through the excretion of urine and faeces, as well as the reduced absorption of phosphate into blood due to the reduced activity of vitamin D, patients' plasma phosphate levels become lower than normal. This results in a chronic systemic phosphate deficiency that
113:
Delayed growth and development are common symptoms of phosphate diabetes in children, resulting in stunted growth and a shorter stature compared to their peers. This symptom is typically one of the earliest indicators of the disorder and may require treatment with growth hormone therapy to promote
472:
In the urine of phosphate diabetes patients, excess amount of phosphate can be detected due to the impaired reabsorption of phosphate in the kidneys. By testing for the concentration of phosphate in urine, whether the patient is suffering from phosphate diabetes can be determined.
363:
FGF23 stimulates the activity of CYP24A1 in breaking down the activated form of vitamin D. As the availability of activated vitamin D in blood is decreased, the absorption of phosphate into bloodstream is hindered, which further intensifies the systemic
538:
should be performed on a child after birth if one of the parents has been diagnosed with the disorder during childhood. Earlier diagnosis of the disease can facilitate more effective treatments, hence minimising its impact on the child.
481:
X-ray scans of bones can be useful for doctors to assess abnormalities in bone density and detect bone deformities, such as the bowing of the legs, curvature of spines, which are the symptoms of phosphate diabetes.
354:
etc.). This leads to a decreased levels of activated vitamin D (1,25-dihydroxyvitamin D), which lowers the activity of vitamin D and slows down the absorption of calcium and phosphate in the small intestines.
412:, meaning that there is no family history of the diseased condition. This may happen due to a new mutation in the PHEX gene which arises during fetal development or due to other genetic factors.
64:
Elevated levels of FGF23 in phosphate diabetes lead to an increase in phosphate excretion through urine, thus reducing the phosphate levels in blood. However, due to impaired activation of
431:
While phosphate diabetes can affect individuals of any race or ethnicity, it is more common in certain populations, such as those of
European and Middle Eastern descent.
268:. The PHEX gene encodes for an enzyme called PHEX – phosphate regulating endopeptidase X-linked, which is involved in the regulation of phosphate metabolism in the body.
138:
Children with phosphate diabetes may have a birth defect in which the bones in a baby's skull fuse together too early before the brain is fully formed. This is known as
314:
In addition, increased levels of FGF23 would affect vitamin D metabolism and inhibit the action of vitamin D. Vitamin D needs to be converted into its activated form,
300:
444:
When the patients' body appear symptoms of phosphate diabetes, they are recommended to go to the hospital for consultation and body check. Doctors specialised in
398:(one of the sex chromosomes). This inheritance trait is dominant, a single copy of the mutation from the parent is sufficient to cause the disorder in the child.
860:
502:(s) of patients, it can confirm a diagnosis of phosphate diabetes. At the same time, other family members who are at risk of the disease can be identified.
1759:
72:
and phosphate absorption, patients with this disorder are unable to replenish the lost phosphate. This results in low absorption of phosphate from the
1826:"Clinical guidelines for burosumab in the treatment of XLH in children and adolescents: British paediatric and adolescent bone group recommendations"
323:
780:
739:
464:(PTH) levels remain to be normal. Blood tests can be performed to measure if there are any abnormalities with the phosphate levels in blood.
182:. Patients may have difficulties in performing physical activities and may require physical therapy to improve muscle strength and function.
1497:
122:
Children with phosphate diabetes may start to walk late (at the age of one and a half years and later) due to impaired bone development.
420:
phosphate diabetes is a rare condition that affects approximately 1 in 20000-25000 individuals, making it relatively difficult to study
343:
338:
FGF23 inhibits the catalytic activity of CYP27B1 in activating vitamin D in the kidneys through a signalling pathway that involves the
190:
1712:"Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications"
339:
408:
While phosphate diabetes is typically inherited through X-linked dominant inheritance, in some rare cases, the disorder may occur
347:
1523:
281:
154:
As phosphate is essential for the formation and maintenance of healthy teeth, phosphate diabetes can lead to a wide range of
1573:"Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries"
1058:"FGF23 decreases renal NaPi-2a and NaPi-2c expression and induces hypophosphatemia in vivo predominantly via FGF receptor 1"
1943:
391:
645:
202:
Due to phosphate deficiency, patients' bones in the legs may become fragile and brittle, which leads to a characteristic
763:
Akimbekov NS, Digel I, Sherelkhan DK, Razzaque MS (2022). "Vitamin D and
Phosphate Interactions in Health and Disease".
868:
452:
can examine the patient's health condition, and prescribe suitable medicine or arrange referral for further checking.
296:
254:
54:
330:
play an active role in these reactions. However, high levels of FGF23 in blood hinders the activation of vitamin D:
698:
548:
351:
39:
1917:
53:, which refers to the pathologies of the renal tubules. The mutated PHEX gene causes pathological elevations in
227:
1352:
Chanakul A, Zhang MY, Louw A, Armbrecht HJ, Miller WL, Portale AA, Perwad F (2013-09-03). Dussaule JC (ed.).
806:"Vitamin D, calcium and phosphorus status in children with short stature - effect of growth hormone therapy"
581:
Laroche M, Boyer JF (October 2005). "Phosphate diabetes, tubular phosphate reabsorption and phosphatonins".
73:
1571:
Al
Juraibah F, Al Amiri E, Al Dubayee M, Al Jubeh J, Al Kandari H, Al Sagheir A, et al. (March 2021).
884:"Oral health-related quality of life in patients with X-linked hypophosphatemia: a qualitative exploration"
882:
Nguyen C, Celestin E, Chambolle D, Linglart A, Biosse Duplan M, Chaussain C, Friedlander L (January 2022).
861:"Rickets and Osteomalacia Are the Underlying Sources of Symptoms That Will Progress Throughout Adulthood"
956:
Beck-Nielsen SS, Mughal Z, Haffner D, Nilsson O, Levtchenko E, Ariceta G, et al. (February 2019).
1365:
558:
31:
318:, to perform its role of regulating calcium and phosphate absorption in the intestines. A series of
1671:"Insights into the Molecular and Hormonal Regulation of Complications of X-Linked Hypophosphatemia"
461:
319:
1107:"Mechanisms of Epidermal Growth Factor Effect on Animal Intestinal Phosphate Absorption: A Review"
1056:
Gattineni J, Bates C, Twombley K, Dwarakanath V, Robinson ML, Goetz R, et al. (August 2009).
620:
1898:
835:
745:
449:
428:
and improved awareness of the condition have led to increased diagnosis rates in recent years.
1890:
1855:
1741:
1692:
1651:
1602:
1479:
1444:
1393:
1334:
1285:
1236:
1187:
1138:
1087:
1038:
989:
913:
827:
786:
776:
735:
598:
1158:"Role of FGF23 in vitamin D and phosphate metabolism: implications in chronic kidney disease"
76:, leading to a deficiency of phosphate in the body and disrupting the full calcium-phosphate
1882:
1845:
1837:
1731:
1723:
1682:
1641:
1633:
1620:
Skrinar A, Dvorak-Ewell M, Evins A, Macica C, Linglart A, Imel EA, et al. (July 2019).
1592:
1584:
1471:
1434:
1424:
1383:
1373:
1324:
1316:
1275:
1267:
1226:
1218:
1177:
1169:
1128:
1118:
1077:
1069:
1028:
1020:
979:
969:
903:
895:
817:
768:
727:
590:
535:
495:
409:
365:
285:
139:
105:
1622:"The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey"
425:
175:
155:
1369:
460:
In phosphate diabetes patients' blood, the phosphate levels are level while calcium and
1850:
1825:
1736:
1711:
1646:
1621:
1597:
1572:
1439:
1412:
1388:
1353:
1329:
1304:
1280:
1255:
1231:
1206:
1182:
1157:
1133:
1106:
1082:
1057:
1033:
1008:
984:
957:
908:
883:
731:
250:
239:
195:
179:
159:
1475:
804:
Klatka M, Partyka M, Polak A, Terpiłowska B, Terpiłowski M, Chałas R (December 2021).
1937:
1462:
Laroche M (May 2001). "Phosphate, the renal tubule, and the musculoskeletal system".
839:
749:
445:
94:
1902:
1809:. In Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp KW, Amemiya A (eds.).
130:
1271:
499:
421:
402:
395:
304:
265:
235:
663:
1378:
1354:"FGF-23 regulates CYP27B1 transcription in the kidney and in extra-renal tissues"
932:"PHEX phosphate regulating endopeptidase X-linked [Homo sapiens (human)]"
767:. Advances in Experimental Medicine and Biology. Vol. 1362. pp. 37–46.
594:
1173:
1073:
772:
380:
163:
100:
58:
50:
1588:
226:
In severe cases of phosphate diabetes, the deficiency of phosphate can lead to
1886:
1806:
1687:
1670:
1222:
1123:
974:
315:
308:
203:
77:
23:
1696:
511:
215:
143:
65:
35:
1894:
1859:
1784:
1745:
1655:
1606:
1483:
1448:
1397:
1338:
1289:
1240:
1191:
1142:
1091:
1042:
993:
917:
831:
822:
805:
790:
602:
1637:
931:
491:
43:
27:
1727:
1429:
1841:
1547:
1320:
1024:
899:
553:
327:
231:
69:
1256:"Vitamin D metabolism, mechanism of action, and clinical applications"
390:
Phosphate diabetes that results from mutations in the PHEX gene is an
958:"FGF23 and its role in X-linked hypophosphatemia-related morbidity"
372:
may cause a variety of symptoms with varying degrees of intensity.
1205:
Christakos S, Dhawan P, Porta A, Mady LJ, Seth T (December 2011).
494:
in the PHEX gene usually possess phosphate diabetes. Through the
1873:
Malberti F (May 2013). "Hyperphosphataemia: treatment options".
534:
Since phosphate diabetes is an inheritable condition, immediate
517:
Drug therapy for maintaining normal calcium and phosphate levels
261:
46:
1710:
Rafaelsen S, Johansson S, Ræder H, Bjerknes R (February 2016).
322:
are required for the activation of vitamin D, and enzymes like
238:(softening of the bones which leads to frequent fractures) and
576:
574:
214:
In phosphate diabetes, the softening of the bones can lead to
1824:
Padidela R, Cheung MS, Saraff V, Dharmaraj P (October 2020).
174:
The deficiency of phosphate may affect muscles, resulting in
61:
by decreasing the reabsorption of phosphate in the kidneys.
38:. Also named as X-linked dominant hypophosphatemic rickets (
722:
Fukumoto S (January 2020). "Fibroblast growth factor 23.".
1504:. U.S. Department of Health and Human Services. 2012-07-20
260:
phosphate diabetes is caused by a genetic mutation in the
699:"Phosphate diabetes: symptoms, diagnosis, treatment blog"
342:
and downstream intracellular signalling molecules (e.g.
299:
acts on the intestines to reduce the expression of the
280:
FGF23 acts on the kidneys to reduce the expression of
68:, which plays a crucial role in increasing intestinal
1787:. United Kingdom: National Health Service. 2017-10-19
1524:"Inheritance of Single-Gene Disorders - Fundamentals"
1918:"Knee joint deformities in children (leg curvature)"
34:
that affects the way the body processes and absorbs
394:disorder, where the mutated gene is located on the
1813:. Seattle (WA): University of Washington, Seattle.
1669:Jagga S, Venkat S, Sorsby M, Liu ES (March 2023).
1413:"Cytochrome P450-mediated metabolism of vitamin D"
692:
690:
688:
686:
684:
646:"PHEX phosphate regulating endopeptidase X-linked"
810:Annals of Agricultural and Environmental Medicine
218:, especially in the knees, hips, and lower back.
1411:Jones G, Prosser DE, Kaufmann M (January 2014).
1062:American Journal of Physiology. Renal Physiology
328:1,25-dihydroxyvitamin D-24-hydroxylase (CYP24A1)
614:
612:
42:), this disease is caused by a mutation in the
1498:"Definition of X-linked dominant inheritance"
1207:"Vitamin D and intestinal calcium absorption"
401:As males have only one X chromosome (and one
8:
324:25-hydroxyvitamin D-1α-hydroxylase (CYP27B1)
93:A common symptom of phosphate diabetes is
1849:
1735:
1686:
1645:
1596:
1438:
1428:
1387:
1377:
1328:
1279:
1230:
1181:
1132:
1122:
1081:
1032:
983:
973:
907:
821:
301:sodium-phosphate co-transporter (NaPi-2b)
379:
249:
189:
129:
99:
570:
158:, including the formation of cavities,
726:. Academic Press. pp. 1529–1538.
1760:"High Phosphorus (hyperphosphatemia)"
619:Schnabel D, Haffner D (18 May 2018).
57:, a hormone that regulates phosphate
7:
1211:Molecular and Cellular Endocrinology
855:
853:
851:
849:
652:. U.S. National Library of Medicine.
30:disorder associated with inadequate
1303:Latic N, Erben RG (December 2021).
1105:Tang X, Liu X, Liu H (2021-06-14).
938:. U.S. National Library of Medicine
670:. U.S. National Library of Medicine
255:Fibroblast Growth Factor 23 (FGF23)
55:fibroblast growth factor 23 (FGF23)
732:10.1016/B978-0-12-814841-9.00063-4
222:Deformities of the bones (rickets)
14:
1716:European Journal of Endocrinology
962:Orphanet Journal of Rare Diseases
621:"What is phosphate diabetes(XLH)"
1626:Journal of the Endocrine Society
1305:"FGF23 and Vitamin D Metabolism"
1013:Kidney International. Supplement
668:MedlinePlus Medical Encyclopedia
282:sodium/phosphate co-transporters
134:Bowed legs in phosphate diabetes
1785:"Bone density scan (DEXA scan)"
1111:Frontiers in Veterinary Science
359:Stimulation of CYP24A1 activity
292:Intestinal phosphate absorption
230:, resulting in conditions like
114:normal growth and development.
1272:10.1016/j.chembiol.2013.12.016
697:Viktorovich VV (29 May 2020).
334:Inhibition of CYP27B1 activity
1:
1476:10.1016/s1297-319x(01)00274-3
865:Ultragenyx Pharmaceutical Inc
385:X-linked dominant inheritance
1916:Qasımov E (9 January 2022).
1379:10.1371/journal.pone.0072816
595:10.1016/j.jbspin.2004.07.013
1807:"X-Linked Hypophosphatemia"
1528:MSD Manual Consumer Version
1174:10.1016/j.yexcr.2012.02.027
1074:10.1152/ajprenal.90742.2008
773:10.1007/978-3-030-91623-7_5
627:. Translated by Kirchhoff M
1960:
1589:10.1007/s11657-021-00879-9
1162:Experimental Cell Research
724:Principles of Bone Biology
242:(curvature of the spine).
1887:10.1007/s40265-013-0054-y
1764:American Kidney Fund, Inc
1688:10.3390/endocrines4010014
1502:National Cancer Institute
1417:Journal of Lipid Research
1223:10.1016/j.mce.2011.05.038
1124:10.3389/fvets.2021.670140
975:10.1186/s13023-019-1014-8
549:X-linked hypophosphatemia
440:Consultation with doctors
276:Renal phosphate Excretion
1577:Archives of Osteoporosis
1522:Padiath QS (June 2023).
1007:Jüppner H (April 2011).
520:Leg curvature correction
228:deformities of the bones
1260:Chemistry & Biology
1254:Bikle DD (March 2014).
1156:Quarles LD (May 2012).
424:. However, advances in
368:in the patient's body.
316:1,25-dihydroxyvitamin D
198:) in phosphate diabetes
74:gastrointestinal system
1009:"Phosphate and FGF-23"
530:Genetic screening test
387:
257:
199:
135:
110:
1830:Endocrine Connections
1638:10.1210/js.2018-00365
888:Endocrine Connections
383:
305:brush border membrane
253:
193:
133:
108:in phosphate diabetes
103:
1944:Congenital disorders
823:10.26444/aaem/139569
765:Phosphate Metabolism
664:"Phosphorus in diet"
625:Phosphatdiabetes e.V
559:Vitamin D deficiency
366:phosphate deficiency
194:Curvation of spine (
32:tubular reabsorption
1728:10.1530/EJE-15-0515
1430:10.1194/jlr.R031534
1370:2013PLoSO...872816C
462:parathyroid hormone
320:enzymatic reactions
1842:10.1530/EC-20-0291
1321:10.1002/jbm4.10558
1025:10.1038/ki.2011.27
900:10.1530/EC-21-0564
388:
258:
204:bowing of the legs
200:
136:
111:
84:Signs and symptoms
20:Phosphate diabetes
1836:(10): 1051–1056.
1805:Ruppe MD (1993).
782:978-3-030-91621-3
741:978-0-12-814841-9
422:epidemiologically
392:X-linked dominant
142:that may lead to
16:Medical condition
1951:
1928:
1927:
1925:
1924:
1913:
1907:
1906:
1870:
1864:
1863:
1853:
1821:
1815:
1814:
1802:
1796:
1795:
1793:
1792:
1781:
1775:
1774:
1772:
1771:
1756:
1750:
1749:
1739:
1707:
1701:
1700:
1690:
1666:
1660:
1659:
1649:
1632:(7): 1321–1334.
1617:
1611:
1610:
1600:
1568:
1562:
1561:
1559:
1558:
1544:
1538:
1537:
1535:
1534:
1519:
1513:
1512:
1510:
1509:
1494:
1488:
1487:
1464:Joint Bone Spine
1459:
1453:
1452:
1442:
1432:
1408:
1402:
1401:
1391:
1381:
1349:
1343:
1342:
1332:
1300:
1294:
1293:
1283:
1251:
1245:
1244:
1234:
1202:
1196:
1195:
1185:
1168:(9): 1040–1048.
1153:
1147:
1146:
1136:
1126:
1102:
1096:
1095:
1085:
1068:(2): F282–F291.
1053:
1047:
1046:
1036:
1019:(121): S24–S27.
1004:
998:
997:
987:
977:
953:
947:
946:
944:
943:
928:
922:
921:
911:
879:
873:
872:
871:on 15 July 2020.
867:. Archived from
857:
844:
843:
825:
801:
795:
794:
760:
754:
753:
719:
713:
712:
710:
709:
694:
679:
678:
676:
675:
660:
654:
653:
642:
636:
635:
633:
632:
616:
607:
606:
583:Joint Bone Spine
578:
536:genetic analysis
496:genetic analysis
486:Genetic Analysis
286:hypophosphatemia
144:head deformities
140:craniosynostosis
126:Craniosynostosis
106:Craniosynostosis
1959:
1958:
1954:
1953:
1952:
1950:
1949:
1948:
1934:
1933:
1932:
1931:
1922:
1920:
1915:
1914:
1910:
1872:
1871:
1867:
1823:
1822:
1818:
1804:
1803:
1799:
1790:
1788:
1783:
1782:
1778:
1769:
1767:
1758:
1757:
1753:
1709:
1708:
1704:
1668:
1667:
1663:
1619:
1618:
1614:
1570:
1569:
1565:
1556:
1554:
1548:"Causes of XLH"
1546:
1545:
1541:
1532:
1530:
1521:
1520:
1516:
1507:
1505:
1496:
1495:
1491:
1461:
1460:
1456:
1410:
1409:
1405:
1351:
1350:
1346:
1302:
1301:
1297:
1253:
1252:
1248:
1204:
1203:
1199:
1155:
1154:
1150:
1104:
1103:
1099:
1055:
1054:
1050:
1006:
1005:
1001:
955:
954:
950:
941:
939:
930:
929:
925:
881:
880:
876:
859:
858:
847:
803:
802:
798:
783:
762:
761:
757:
742:
721:
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696:
695:
682:
673:
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618:
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610:
580:
579:
572:
567:
545:
532:
527:
508:
488:
479:
470:
458:
442:
437:
426:genetic testing
418:
378:
361:
336:
294:
278:
264:located on the
248:
246:Pathophysiology
224:
212:
188:
176:muscle weakness
172:
170:Muscle weakness
156:dental problems
152:
150:Dental problems
128:
120:
118:Delayed walking
91:
86:
17:
12:
11:
5:
1957:
1955:
1947:
1946:
1936:
1935:
1930:
1929:
1908:
1881:(7): 673–688.
1865:
1816:
1797:
1776:
1751:
1722:(2): 125–136.
1702:
1681:(1): 151–168.
1661:
1612:
1563:
1539:
1514:
1489:
1454:
1403:
1344:
1315:(12): e10558.
1295:
1266:(3): 319–329.
1246:
1217:(1–2): 25–29.
1197:
1148:
1097:
1048:
999:
948:
923:
894:(1): e210564.
874:
845:
816:(4): 686–691.
796:
781:
755:
740:
714:
680:
655:
637:
608:
589:(5): 376–381.
569:
568:
566:
563:
562:
561:
556:
551:
544:
541:
531:
528:
526:
523:
522:
521:
518:
515:
507:
504:
490:Patients with
487:
484:
478:
475:
469:
466:
457:
454:
441:
438:
436:
433:
417:
414:
377:
374:
360:
357:
335:
332:
293:
290:
277:
274:
247:
244:
240:kyphoscoliosis
223:
220:
211:
208:
196:Kyphoscoliosis
187:
184:
171:
168:
151:
148:
127:
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1923:2023-04-12
1791:2023-04-12
1770:2023-04-12
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