U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Medullary nephrocalcinosis

MedGen UID:
588418
Concept ID:
C0403477
Disease or Syndrome
SNOMED CT: Medullary nephrocalcinosis (236447005)
 
HPO: HP:0012408

Definition

The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMedullary nephrocalcinosis

Conditions with this feature

Renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies
MedGen UID:
370587
Concept ID:
C1969055
Disease or Syndrome
Hypophosphatemic rickets, autosomal recessive, 2
MedGen UID:
442380
Concept ID:
C2750078
Disease or Syndrome
Another 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\nResearchers 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\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.
Hypercalcemia, infantile, 1
MedGen UID:
934200
Concept ID:
C4310232
Disease or Syndrome
Infantile hypercalcemia is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. An epidemic of idiopathic infantile hypercalcemia occurred in the United Kingdom in the 1950s after the implementation of an increased prophylactic dose of vitamin D supplementation; however, the fact that most infants receiving the prophylaxis remained unaffected suggested that an intrinsic hypersensitivity to vitamin D might be implicated in the pathogenesis (summary by Schlingmann et al., 2011). Genetic Heterogeneity Infantile hypercalcemia-2 (HCINF2; 616963) is caused by mutation in the SLC34A1 gene (182309) on chromosome 5q35.
Hypercalcemia, infantile, 2
MedGen UID:
934441
Concept ID:
C4310473
Disease or Syndrome
Infantile hypercalcemia is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis (summary by Schlingmann et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypercalcemia, see HCINF1 (143880).
Bartter disease type 5
MedGen UID:
934787
Concept ID:
C4310820
Disease or Syndrome
Antenatal Bartter syndrome is a potentially life-threatening disease characterized by fetal polyuria, polyhydramnios, prematurity, and postnatal polyuria with persistent renal salt wasting. In transient antenatal Bartter syndrome-5, the onset of polyhydramnios and labor occur several weeks earlier than in other forms of Bartter syndrome. Polyuria lasts from a few days to 6 weeks, ending around 30 to 33 weeks of gestational age. Other features in the neonatal period include hypercalciuria, causing nephrocalcinosis in some cases, as well as hyponatremia, hypokalemia, and elevated renin and aldosterone; these subsequently resolve or normalize, although nephrocalcinosis may persist (Laghmani et al., 2016).
Tumoral calcinosis, hyperphosphatemic, familial, 2
MedGen UID:
1640532
Concept ID:
C4693863
Disease or Syndrome
Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone (Chefetz et al., 2005). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 or GALNT3 (601756) gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement (Frishberg et al., 2005), Ichikawa et al. (2010) concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis. HFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; 193100), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption (Chefetz et al., 2005; Ichikawa et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of HFTC, see 211900.
Arthrogryposis multiplex congenita 5
MedGen UID:
1731112
Concept ID:
C5436453
Disease or Syndrome
Arthrogryposis multiplex congenita-5 (AMC5) is an autosomal recessive disorder characterized by severe joint contractures apparent at birth. Affected individuals usually have hypertonia and abnormal movements suggestive of dystonia, as well as feeding and/or breathing difficulties. More variable features may include poor overall growth, strabismus, dysmorphic facies, and global developmental delay with impaired speech (summary by Kariminejad et al., 2017).
Biliary, renal, neurologic, and skeletal syndrome
MedGen UID:
1794200
Concept ID:
C5561990
Disease or Syndrome
Biliary, renal, neurologic, and skeletal syndrome (BRENS) is an autosomal recessive complex ciliopathy with multisystemic manifestations. The most common presentation is severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis. Most patients have additional clinical features suggestive of a ciliopathy, including postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features of the syndrome may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development (summary by Shaheen et al., 2020 and David et al., 2020).
Combined oxidative phosphorylation deficiency 55
MedGen UID:
1806598
Concept ID:
C5676915
Disease or Syndrome
Combined oxidative phosphorylation deficiency-55 (COXPD55) is characterized by global developmental delay, hypotonia, short stature, and impaired intellectual development with speech disabilities in childhood. Indolent progressive external ophthalmoplegia phenotype has been described in 1 patient (summary by Olahova et al., 2021). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).

Professional guidelines

PubMed

Goodyer PR, Kronick JB, Jequier S, Reade TM, Scriver CR
J Pediatr 1987 Nov;111(5):700-4. doi: 10.1016/s0022-3476(87)80245-7. PMID: 2822887
Rausch HP, Hanefeld F, Kaufmann HJ
Radiology 1984 Oct;153(1):105-7. doi: 10.1148/radiology.153.1.6089261. PMID: 6089261

Recent clinical studies

Etiology

Wang Q, Chen JJ, Wei LY, Ding Y, Liu M, Li WJ, Su C, Gong CX
Orphanet J Rare Dis 2024 Mar 19;19(1):126. doi: 10.1186/s13023-024-03135-8. PMID: 38504242Free PMC Article
Ferreira CR, Kavanagh D, Oheim R, Zimmerman K, Stürznickel J, Li X, Stabach P, Rettig RL, Calderone L, MacKichan C, Wang A, Hutchinson HA, Nelson T, Tommasini SM, von Kroge S, Fiedler IA, Lester ER, Moeckel GW, Busse B, Schinke T, Carpenter TO, Levine MA, Horowitz MC, Braddock DT
J Bone Miner Res 2021 May;36(5):942-955. Epub 2021 Feb 18 doi: 10.1002/jbmr.4254. PMID: 33465815Free PMC Article
Kim YG, Kim B, Kim MK, Chung SJ, Han HJ, Ryu JA, Lee YH, Lee KB, Lee JY, Huh W, Oh HY
Nephrol Dial Transplant 2001 Dec;16(12):2303-9. doi: 10.1093/ndt/16.12.2303. PMID: 11733620
Theodoropoulos DS, Shawker TH, Heinrichs C, Gahl WA
Pediatr Nephrol 1995 Aug;9(4):412-8. doi: 10.1007/BF00866713. PMID: 7577398
Alon U, Donaldson DL, Hellerstein S, Warady BA, Harris DJ
J Pediatr 1992 Jun;120(6):899-905. doi: 10.1016/s0022-3476(05)81957-2. PMID: 1317418

Diagnosis

Aldana JC, Rodríguez LC, Bastidas N, Vásquez A
Br J Radiol 2023 Aug;96(1148):20221096. Epub 2023 May 25 doi: 10.1259/bjr.20221096. PMID: 37194990Free PMC Article
Cleveland B, Borofsky M
BMC Urol 2021 Nov 29;21(1):164. doi: 10.1186/s12894-021-00931-3. PMID: 34844581Free PMC Article
Khandelwal P, Sabanadesan J, Sinha A, Hari P, Bagga A
CEN Case Rep 2020 Aug;9(3):232-236. Epub 2020 Mar 17 doi: 10.1007/s13730-020-00464-y. PMID: 32185747Free PMC Article
Park E, Kang HG, Choi YH, Lee KB, Moon KC, Jeong HJ, Nagata M, Cheong HI
Pediatr Nephrol 2017 Sep;32(9):1547-1554. Epub 2017 Apr 12 doi: 10.1007/s00467-017-3657-9. PMID: 28405841
Bobrowski AE, Langman CB
Expert Opin Pharmacother 2006 Oct;7(14):1887-96. doi: 10.1517/14656566.7.14.1887. PMID: 17020415

Therapy

Herzig L, de Lacy N, Capone G, Radesky J
J Dev Behav Pediatr 2018 Sep;39(7):591-593. doi: 10.1097/DBP.0000000000000613. PMID: 30134288
Kim YG, Kim B, Kim MK, Chung SJ, Han HJ, Ryu JA, Lee YH, Lee KB, Lee JY, Huh W, Oh HY
Nephrol Dial Transplant 2001 Dec;16(12):2303-9. doi: 10.1093/ndt/16.12.2303. PMID: 11733620
Theodoropoulos DS, Shawker TH, Heinrichs C, Gahl WA
Pediatr Nephrol 1995 Aug;9(4):412-8. doi: 10.1007/BF00866713. PMID: 7577398
Alon U, Donaldson DL, Hellerstein S, Warady BA, Harris DJ
J Pediatr 1992 Jun;120(6):899-905. doi: 10.1016/s0022-3476(05)81957-2. PMID: 1317418
Goodyer PR, Kronick JB, Jequier S, Reade TM, Scriver CR
J Pediatr 1987 Nov;111(5):700-4. doi: 10.1016/s0022-3476(87)80245-7. PMID: 2822887

Prognosis

Park E, Kang HG, Choi YH, Lee KB, Moon KC, Jeong HJ, Nagata M, Cheong HI
Pediatr Nephrol 2017 Sep;32(9):1547-1554. Epub 2017 Apr 12 doi: 10.1007/s00467-017-3657-9. PMID: 28405841
Yavuz S, Bayazıt AK, Anarat A, Gonlusen G, Alsancak P
Pediatr Int 2015 Apr;57(2):310-3. doi: 10.1111/ped.12455. PMID: 25868949
Boyce AM, Shawker TH, Hill SC, Choyke PL, Hill MC, James R, Yovetich NA, Collins MT, Gafni RI
J Clin Endocrinol Metab 2013 Mar;98(3):989-94. Epub 2013 Jan 24 doi: 10.1210/jc.2012-2747. PMID: 23348401Free PMC Article
Areses-Trapote R, López-García JA, Ubetagoyena-Arrieta M, Eizaguirre A, Sáez-Villaverde R
Nefrologia 2012 Jul 17;32(4):529-34. doi: 10.3265/Nefrologia.pre2012.Apr.11321. PMID: 22806288
Theodoropoulos DS, Shawker TH, Heinrichs C, Gahl WA
Pediatr Nephrol 1995 Aug;9(4):412-8. doi: 10.1007/BF00866713. PMID: 7577398

Clinical prediction guides

Nahata L, Yu RN, Paltiel HJ, Chow JS, Logvinenko T, Rosoklija I, Cohen LE
J Pediatr 2016 Mar;170:260-5.e1-2. Epub 2015 Dec 31 doi: 10.1016/j.jpeds.2015.12.028. PMID: 26746120
Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C
J Am Soc Nephrol 2014 Oct;25(10):2366-75. Epub 2014 Apr 3 doi: 10.1681/ASN.2013101085. PMID: 24700880Free PMC Article
Boyce AM, Shawker TH, Hill SC, Choyke PL, Hill MC, James R, Yovetich NA, Collins MT, Gafni RI
J Clin Endocrinol Metab 2013 Mar;98(3):989-94. Epub 2013 Jan 24 doi: 10.1210/jc.2012-2747. PMID: 23348401Free PMC Article
Gambaro G, Abaterusso C, Fabris A, Ruggera L, Zattoni F, Del Prete D, D'Angelo A, Anglani F
Arch Ital Urol Androl 2009 Sep;81(3):166-70. PMID: 19911679
Kim YG, Kim B, Kim MK, Chung SJ, Han HJ, Ryu JA, Lee YH, Lee KB, Lee JY, Huh W, Oh HY
Nephrol Dial Transplant 2001 Dec;16(12):2303-9. doi: 10.1093/ndt/16.12.2303. PMID: 11733620

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...