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Hyperphosphaturia

MedGen UID:
78638
Concept ID:
C0268079
Disease or Syndrome
Synonyms: High urine phosphate levels; Phosphaturia
SNOMED CT: Hyperphosphaturia (22450000)
 
HPO: HP:0003109

Definition

An increased excretion of phosphates in the urine. [from HPO]

Conditions with this feature

Hereditary fructosuria
MedGen UID:
42105
Concept ID:
C0016751
Disease or Syndrome
Following dietary exposure to fructose, sucrose, or sorbitol, untreated hereditary fructose intolerance (HFI) is characterized by metabolic disturbances (hypoglycemia, lactic acidemia, hypophosphatemia, hyperuricemia, hypermagnesemia, hyperalaninemia) and clinical findings (nausea, vomiting, and abdominal distress; chronic growth restriction / failure to thrive). While untreated HFI typically first manifested when fructose- and sucrose-containing foods were introduced in the course of weaning young infants from breast milk, it is now presenting earlier, due to the addition of fructose-containing nutrients in infant formulas. If the infant ingests large quantities of fructose, the infant may acutely develop lethargy, seizures, and/or progressive coma. Untreated HFI may result in renal and hepatic failure. If identified and treated before permanent organ injury occurs, individuals with HFI can experience a normal quality of life and life expectancy.
Wilson disease
MedGen UID:
42426
Concept ID:
C0019202
Disease or Syndrome
Wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to older than 50 years; symptoms vary among and within families. Liver disease includes recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations include movement disorders (tremors, poor coordination, loss of fine-motor control, chorea, choreoathetosis) or rigid dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement). Psychiatric disturbance includes depression, neurotic behaviors, disorganization of personality, and, occasionally, intellectual deterioration. Kayser-Fleischer rings, frequently present, result from copper deposition in Descemet's membrane of the cornea and reflect a high degree of copper storage in the body.
Lowe syndrome
MedGen UID:
18145
Concept ID:
C0028860
Disease or Syndrome
Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including low molecular-weight (LMW) proteinuria, aminoaciduria, bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, hypercalciuria, sodium and potassium wasting, and polyuria. The features of symptomatic Fanconi syndrome do not usually become manifest until after the first few months of life, except for LMW proteinuria. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease between the second and fourth decades of life.
Metaphyseal chondrodysplasia, Jansen type
MedGen UID:
120529
Concept ID:
C0265295
Disease or Syndrome
The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcemia and hypophosphatemia occur despite the lack of parathyroid abnormalities (summary by Cohen, 2002).
Neonatal severe primary hyperparathyroidism
MedGen UID:
331326
Concept ID:
C1832615
Disease or Syndrome
Neonatal severe hyperparathyroidism usually manifests in the first 6 months of life with severe hypercalcemia, bone demineralization, and failure to thrive. Early diagnosis is critical because untreated NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy. Some infants have milder hyperparathyroidism and a substantially milder clinical presentation and natural history (summary by Egbuna and Brown, 2008).
Dent disease type 1
MedGen UID:
336322
Concept ID:
C1848336
Disease or Syndrome
Dent disease, an X-linked disorder of proximal renal tubular dysfunction, is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, and at least one additional finding including nephrocalcinosis, nephrolithiasis, hematuria, hypophosphatemia, chronic kidney disease (CKD), and evidence of X-linked inheritance. Males younger than age ten years may manifest only LMW proteinuria and/or hypercalciuria, which are usually asymptomatic. Thirty to 80% of affected males develop end-stage renal disease (ESRD) between ages 30 and 50 years; in some instances ESRD does not develop until the sixth decade of life or later. The disease may also be accompanied by rickets or osteomalacia, growth restriction, and short stature. Disease severity can vary within the same family. Males with Dent disease 2 (caused by pathogenic variants in OCRL) may also have mild intellectual disability, cataracts, and/or elevated muscle enzymes. Due to random X-chromosome inactivation, some female carriers may manifest hypercalciuria and, rarely, renal calculi and moderate LMW proteinuria. Females rarely develop CKD.
Hypophosphatemic nephrolithiasis/osteoporosis 2
MedGen UID:
394127
Concept ID:
C2676782
Disease or Syndrome
Hypophosphatemic nephrolithiasis/osteoporosis 1
MedGen UID:
436776
Concept ID:
C2676786
Disease or Syndrome
Hypophosphatemic rickets, autosomal recessive, 2
MedGen UID:
442380
Concept ID:
C2750078
Disease or Syndrome
Researchers have described several forms of hereditary hypophosphatemic rickets, which are distinguished by their pattern of inheritance and genetic cause. The most common form of the disorder is known as X-linked hypophosphatemic rickets (XLH). It has an X-linked dominant pattern of inheritance. X-linked recessive, autosomal dominant, and autosomal recessive forms of the disorder are much rarer.\n\nAnother rare type of the disorder is known as hereditary hypophosphatemic rickets with hypercalciuria (HHRH). In addition to hypophosphatemia, this condition is characterized by the excretion of high levels of calcium in the urine (hypercalciuria).\n\nOther signs and symptoms of hereditary hypophosphatemic rickets can include premature fusion of the skull bones (craniosynostosis) and dental abnormalities. The disorder may also cause abnormal bone growth where ligaments and tendons attach to joints (enthesopathy). In adults, hypophosphatemia is characterized by a softening of the bones known as osteomalacia.\n\nIn most cases, the signs and symptoms of hereditary hypophosphatemic rickets begin in early childhood. The features of the disorder vary widely, even among affected members of the same family. Mildly affected individuals may have hypophosphatemia without other signs and symptoms. More severely affected children experience slow growth and are shorter than their peers. They develop bone abnormalities that can interfere with movement and cause bone pain. The most noticeable of these abnormalities are bowed legs or knock knees. These abnormalities become apparent with weight-bearing activities such as walking. If untreated, they tend to worsen with time.\n\nHereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth.
Nephropathic cystinosis
MedGen UID:
419735
Concept ID:
C2931187
Disease or Syndrome
Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.
Fanconi-Bickel syndrome
MedGen UID:
501176
Concept ID:
C3495427
Disease or Syndrome
Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose (Manz et al., 1987). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966). Use of the term glycogenosis type XI introduced by Hug (1987) is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport.
Fanconi renotubular syndrome 3
MedGen UID:
816430
Concept ID:
C3810100
Disease or Syndrome
Fanconi renotubular syndrome-3 (FRTS3) is an autosomal dominant disorder characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria (summary by Klootwijk et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 (134600).
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
MedGen UID:
863399
Concept ID:
C4014962
Disease or Syndrome
Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene.
Fanconi renotubular syndrome 1
MedGen UID:
1635492
Concept ID:
C4551503
Disease or Syndrome
Linear nevus sebaceous syndrome
MedGen UID:
1646345
Concept ID:
C4552097
Disease or Syndrome
Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001).
Mitochondrial complex IV deficiency, nuclear type 1
MedGen UID:
1750917
Concept ID:
C5435656
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 1 (MC4DN1) is an autosomal recessive metabolic disorder characterized by rapidly progressive neurodegeneration and encephalopathy with loss of motor and cognitive skills between about 5 and 18 months of age after normal early development. Affected individuals show hypotonia, failure to thrive, loss of the ability to sit or walk, poor communication, and poor eye contact. Other features may include oculomotor abnormalities, including slow saccades, strabismus, ophthalmoplegia, and nystagmus, as well as deafness, apneic episodes, ataxia, tremor, and brisk tendon reflexes. Brain imaging shows bilateral symmetric lesions in the basal ganglia, consistent with a clinical diagnosis of Leigh syndrome (see 256000). Some patients may also have abnormalities in the brainstem and cerebellum. Laboratory studies usually show increased serum and CSF lactate and decreased levels and activity of mitochondrial respiratory complex IV in patient tissues. There is phenotypic variability, but death in childhood, often due to central respiratory failure, is common (summary by Tiranti et al., 1998; Tiranti et al., 1999; Teraoka et al., 1999; Poyau et al., 2000) Genetic Heterogeneity of Mitochondrial Complex IV Deficiency Most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare (Shoubridge, 2001; Sacconi et al., 2003). Mitochondrial complex IV deficiency caused by mutation in nuclear-encoded genes, in addition to MC4DN1, include MC4DN2 (604377), caused by mutation in the SCO2 gene (604272); MC4DN3 (619046), caused by mutation in the COX10 gene (602125); MC4DN4 (619048), caused by mutation in the SCO1 gene (603664); MC4DN5 (220111), caused by mutation in the LRPPRC gene (607544); MC4DN6 (615119), caused by mutation in the COX15 gene (603646); MC4DN7 (619051), caused by mutation in the COX6B1 gene (124089); MC4DN8 (619052), caused by mutation in the TACO1 gene (612958); MC4DN9 (616500), caused by mutation in the COA5 gene (613920); MC4DN10 (619053), caused by mutation in the COX14 gene (614478); MC4DN11 (619054), caused by mutation in the COX20 gene (614698); MC4DN12 (619055), caused by mutation in the PET100 gene (614770); MC4DN13 (616501), caused by mutation in the COA6 gene (614772); MC4DN14 (619058), caused by mutation in the COA3 gene (614775); MC4DN15 (619059), caused by mutation in the COX8A gene (123870); MC4DN16 (619060), caused by mutation in the COX4I1 gene (123864); MC4DN17 (619061), caused by mutation in the APOPT1 gene (616003); MC4DN18 (619062), caused by mutation in the COX6A2 gene (602009); MC4DN19 (619063), caused by mutation in the PET117 gene (614771); MC4DN20 (619064), caused by mutation in the COX5A gene (603773); MC4DN21 (619065), caused by mutation in the COXFA4 gene (603883); MC4DN22 (619355), caused by mutation in the COX16 gene (618064); and MC4DN23 (620275), caused by mutation in the COX11 gene (603648). Mitochondrial complex IV deficiency has been associated with mutations in several mitochondrial genes, including MTCO1 (516030), MTCO2 (516040), MTCO3 (516050), MTTS1 (590080), MTTL1 (590050), and MTTN (590010).

Professional guidelines

PubMed

Ferreira CR, Ziegler SG, Gupta A, Groden C, Hsu KS, Gahl WA
Am J Med Genet A 2016 May;170A(5):1308-11. Epub 2016 Feb 9 doi: 10.1002/ajmg.a.37574. PMID: 26857895Free PMC Article
Rutsch F, Böyer P, Nitschke Y, Ruf N, Lorenz-Depierieux B, Wittkampf T, Weissen-Plenz G, Fischer RJ, Mughal Z, Gregory JW, Davies JH, Loirat C, Strom TM, Schnabel D, Nürnberg P, Terkeltaub R; GACI Study Group
Circ Cardiovasc Genet 2008 Dec;1(2):133-40. doi: 10.1161/CIRCGENETICS.108.797704. PMID: 20016754Free PMC Article
O'Regan S, Carson S, Chesney RW, Drummond KN
Blood 1977 Mar;49(3):345-53. PMID: 264790

Recent clinical studies

Etiology

Gun ZH, Osamor C 3rd, Taylor J, Li X, Szymczuk V, Boyce AM
J Clin Endocrinol Metab 2024 Apr 19;109(5):1334-1340. doi: 10.1210/clinem/dgad671. PMID: 37975816Free PMC Article
Bazeley JW, Wish JB
Am J Kidney Dis 2022 Jun;79(6):868-876. Epub 2021 Nov 7 doi: 10.1053/j.ajkd.2021.09.017. PMID: 34758368
Waimann CA, Lu H, Suarez Almazor ME
Rheum Dis Clin North Am 2011 Nov;37(4):527-49. Epub 2011 Oct 24 doi: 10.1016/j.rdc.2011.09.009. PMID: 22075196
Zerwekh JE
Nutrition 2002 Oct;18(10):857-63. doi: 10.1016/s0899-9007(02)00911-5. PMID: 12361779
Rothstein M, Obialo C, Hruska KA
Endocrinol Metab Clin North Am 1990 Dec;19(4):869-87. PMID: 2081516

Diagnosis

Bazeley JW, Wish JB
Am J Kidney Dis 2022 Jun;79(6):868-876. Epub 2021 Nov 7 doi: 10.1053/j.ajkd.2021.09.017. PMID: 34758368
Ghiculescu RA, Kubler PA
Am J Kidney Dis 2006 Dec;48(6):e89-93. doi: 10.1053/j.ajkd.2006.08.009. PMID: 17162140
Schapira D, Ben Izhak O, Nachtigal A, Burstein A, Shalom RB, Shagrawi I, Best LA
Semin Arthritis Rheum 1995 Aug;25(1):35-46. doi: 10.1016/s0049-0172(95)80016-6. PMID: 8525389
Hewison M
Curr Opin Rheumatol 1994 May;6(3):340-4. doi: 10.1097/00002281-199405000-00017. PMID: 8060772
Rothstein M, Obialo C, Hruska KA
Endocrinol Metab Clin North Am 1990 Dec;19(4):869-87. PMID: 2081516

Therapy

Kritmetapak K, Kumar R
Endocr Pract 2023 Jan;29(1):69-79. Epub 2022 Oct 7 doi: 10.1016/j.eprac.2022.09.007. PMID: 36210014
Bazeley JW, Wish JB
Am J Kidney Dis 2022 Jun;79(6):868-876. Epub 2021 Nov 7 doi: 10.1053/j.ajkd.2021.09.017. PMID: 34758368
Boland JM, Tebben PJ, Folpe AL
J Endocrinol Invest 2018 Oct;41(10):1173-1184. Epub 2018 Feb 14 doi: 10.1007/s40618-018-0849-5. PMID: 29446010
Ghiculescu RA, Kubler PA
Am J Kidney Dis 2006 Dec;48(6):e89-93. doi: 10.1053/j.ajkd.2006.08.009. PMID: 17162140
Zerwekh JE
Nutrition 2002 Oct;18(10):857-63. doi: 10.1016/s0899-9007(02)00911-5. PMID: 12361779

Prognosis

Shi X, Guo T, Wen Y, Ye W, Ye W, Zheng K, Qin Y, Li X, Zhang F, Chen L
Ren Fail 2024 Dec;46(1):2302409. Epub 2024 Jan 26 doi: 10.1080/0886022X.2024.2302409. PMID: 38275162Free PMC Article
Lefèvre CR, Peltier L, Lokchine A, Ryckewaert A, Moreau C
Ann Biol Clin (Paris) 2022 Sep 1;80(5):460-463. doi: 10.1684/abc.2022.1747. PMID: 36453734
Vô B, Yombi JC, Aydin S, Demoulin N, Yildiz H
BMC Nephrol 2018 Oct 19;19(1):274. doi: 10.1186/s12882-018-1077-0. PMID: 30340545Free PMC Article
Rutsch F, Böyer P, Nitschke Y, Ruf N, Lorenz-Depierieux B, Wittkampf T, Weissen-Plenz G, Fischer RJ, Mughal Z, Gregory JW, Davies JH, Loirat C, Strom TM, Schnabel D, Nürnberg P, Terkeltaub R; GACI Study Group
Circ Cardiovasc Genet 2008 Dec;1(2):133-40. doi: 10.1161/CIRCGENETICS.108.797704. PMID: 20016754Free PMC Article
Ghiculescu RA, Kubler PA
Am J Kidney Dis 2006 Dec;48(6):e89-93. doi: 10.1053/j.ajkd.2006.08.009. PMID: 17162140

Clinical prediction guides

Gun ZH, Osamor C 3rd, Taylor J, Li X, Szymczuk V, Boyce AM
J Clin Endocrinol Metab 2024 Apr 19;109(5):1334-1340. doi: 10.1210/clinem/dgad671. PMID: 37975816Free PMC Article
Casado JL
AIDS Rev 2016 Apr-Jun;18(2):59-68. PMID: 27230467
Imanishi Y, Kobayashi K, Kawata T, Inaba M, Nishizawa Y
Ther Apher Dial 2007 Oct;11 Suppl 1:S32-7. doi: 10.1111/j.1744-9987.2007.00519.x. PMID: 17976083
Ghiculescu RA, Kubler PA
Am J Kidney Dis 2006 Dec;48(6):e89-93. doi: 10.1053/j.ajkd.2006.08.009. PMID: 17162140
Zerwekh JE
Nutrition 2002 Oct;18(10):857-63. doi: 10.1016/s0899-9007(02)00911-5. PMID: 12361779

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