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Elevated serum creatinine

MedGen UID:
148579
Concept ID:
C0700225
Finding
Synonyms: Elevated creatinine; High blood creatinine level; Increased creatinine; Increased serum creatinine
SNOMED CT: Serum creatinine raised (166717003)
 
HPO: HP:0003259

Definition

An increased amount of creatinine in the blood. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated serum creatinine

Conditions with this feature

Familial dysautonomia
MedGen UID:
41678
Concept ID:
C0013364
Congenital Abnormality
Familial dysautonomia (FD) affects the development and survival of sensory, sympathetic, and parasympathetic neurons. It is a debilitating disease present from birth. Neuronal degeneration progresses throughout life. Affected individuals have gastrointestinal dysfunction, vomiting crises, recurrent pneumonia, altered sensitivity to pain and temperature perception, and cardiovascular instability. About 40% of individuals have autonomic crises. Hypotonia contributes to delay in acquisition of motor milestones. Older individuals often have a broad-based and ataxic gait that deteriorates over time. Life expectancy is decreased.
Progressive hereditary glomerulonephritis without deafness
MedGen UID:
98012
Concept ID:
C0403443
Disease or Syndrome
Upshaw-Schulman syndrome
MedGen UID:
224783
Concept ID:
C1268935
Disease or Syndrome
The classic pentad of TTP includes hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and nonfocal neurologic findings, decreased renal function, and fever. Congenital TTP, also known as Schulman-Upshaw syndrome, is characterized by neonatal onset, response to fresh plasma infusion, and frequent relapses (Savasan et al., 2003; Kokame et al., 2002). Acquired TTP, which is usually sporadic, usually occurs in adults and is caused by an IgG inhibitor against the von Willebrand factor-cleaving protease.
Tubulointerstitial nephritis and uveitis
MedGen UID:
334715
Concept ID:
C1843273
Disease or Syndrome
An autoimmune disorder comprising tubulointerstitial nephritis and uveitis.(NICHD)
Cryoglobulinemia, familial mixed
MedGen UID:
343814
Concept ID:
C1852456
Disease or Syndrome
Ichthyosis, mental retardation, dwarfism and renal impairment
MedGen UID:
340966
Concept ID:
C1855787
Disease or Syndrome
Infantile nephronophthisis
MedGen UID:
355574
Concept ID:
C1865872
Disease or Syndrome
The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recongnized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/ adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).
Medullary cystic kidney disease 1
MedGen UID:
358137
Concept ID:
C1868139
Disease or Syndrome
Autosomal dominant tubulointerstitial kidney disease, MUC1-related (ADTKD-MUC1) was previously known as medullary cystic kidney disease type 1. It is characterized by slowly progressive tubulointerstitial disease that leads to end-stage renal disease (ESRD) and the need for dialysis or kidney transplantation. ESRD typically occurs in adulthood but is extremely variable, occurring at any age between 20 and 70 years. There are no other systemic manifestations.
Atypical hemolytic-uremic syndrome 1
MedGen UID:
412743
Concept ID:
C2749604
Finding
Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).
Polycystic kidney disease 2
MedGen UID:
442699
Concept ID:
C2751306
Disease or Syndrome
Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by: bilateral renal cysts; cysts in other organs including the liver, seminal vesicles, pancreas, and arachnoid membrane; vascular abnormalities including intracranial aneurysms, dilatation of the aortic root, and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Renal manifestations include hypertension, renal pain, and renal insufficiency. Approximately 50% of individuals with ADPKD have end-stage renal disease (ESRD) by age 60 years. The prevalence of liver cysts, the most common extrarenal manifestation of ADPKD, increases with age and may have been underestimated by ultrasound studies. The prevalence of intracranial aneurysms is higher in those with a positive family history of aneurysms or subarachnoid hemorrhage (22%) than in those without such a family history (6%). Mitral valve prolapse, the most common valvular abnormality, occurs in up to 25% of affected individuals. Substantial variability in severity of renal disease and other extrarenal manifestations occurs even within the same family.
Atypical hemolytic-uremic syndrome 6
MedGen UID:
414541
Concept ID:
C2752036
Finding
Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).
Atypical hemolytic-uremic syndrome 5
MedGen UID:
442875
Concept ID:
C2752037
Finding
Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).
Atypical hemolytic-uremic syndrome 4
MedGen UID:
416691
Concept ID:
C2752038
Finding
Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).
Atypical hemolytic-uremic syndrome 3
MedGen UID:
414542
Concept ID:
C2752039
Finding
Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).
Atypical hemolytic-uremic syndrome 2
MedGen UID:
414167
Concept ID:
C2752040
Finding
Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).
Asphyxiating thoracic dystrophy 5
MedGen UID:
482228
Concept ID:
C3280598
Disease or Syndrome
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
Interstitial nephritis, karyomegalic
MedGen UID:
766688
Concept ID:
C3553774
Disease or Syndrome
Karyomegalic tubulointerstitial nephritis (KTN) is a rare kidney disease characterized clinically by onset in the third decade of progressive renal failure. Renal biopsy shows chronic tubulointerstitial nephritis and interstitial fibrosis associated with enlarged and atypical tubular epithelial cell nuclei (summary by Baba et al., 2006).
Coenzyme Q10 deficiency, primary, 8
MedGen UID:
908648
Concept ID:
C4225226
Disease or Syndrome
Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen.

Recent clinical studies

Etiology

Hasannia T, Moosavi Movahed SM, Vakili R, Rafatpanah H, Hekmat R, Valizadeh N, Rezaee SA
Ren Fail 2016 Oct;38(9):1418-1424. Epub 2016 Aug 2 doi: 10.1080/0886022X.2016.1214147. PMID: 27484706
Gallinat A, Leerhoff S, Paul A, Molmenti EP, Schulze M, Witzke O, Sotiropoulos GC
Langenbecks Arch Surg 2016 Dec;401(8):1211-1217. Epub 2016 Jun 8 doi: 10.1007/s00423-016-1445-9. PMID: 27270909
Panotopoulos J, Posch F, Funovics PT, Willegger M, Scharrer A, Lamm W, Brodowicz T, Windhager R, Ay C
J Orthop Res 2016 Mar;34(3):533-8. Epub 2015 Sep 8 doi: 10.1002/jor.23002. PMID: 26222652
Chung MH, Chu FY, Yang TM, Lin HJ, Chen JH, Guo HR, Vong SC, Su SB, Huang CC, Hsu CC
Geriatr Gerontol Int 2015 Jul;15(7):834-9. Epub 2014 Oct 10 doi: 10.1111/ggi.12355. PMID: 25302851
Chang YK, Lee SJ, Chung BH, Kim YO, Shin YS
Clin Nephrol 2012 Apr;77(4):283-9. PMID: 22445471

Diagnosis

Hasannia T, Moosavi Movahed SM, Vakili R, Rafatpanah H, Hekmat R, Valizadeh N, Rezaee SA
Ren Fail 2016 Oct;38(9):1418-1424. Epub 2016 Aug 2 doi: 10.1080/0886022X.2016.1214147. PMID: 27484706
Chung MH, Chu FY, Yang TM, Lin HJ, Chen JH, Guo HR, Vong SC, Su SB, Huang CC, Hsu CC
Geriatr Gerontol Int 2015 Jul;15(7):834-9. Epub 2014 Oct 10 doi: 10.1111/ggi.12355. PMID: 25302851
Batal I, Bijol V, Riella LV, Rennke HG
Am J Transplant 2013 Mar;13(3):817-8. doi: 10.1111/ajt.12012. PMID: 23437883
Adibelli Z, Woo E, Abt P, Goral S
Clin Nephrol 2012 Oct;78(4):322-4. PMID: 22981034
Chang YK, Lee SJ, Chung BH, Kim YO, Shin YS
Clin Nephrol 2012 Apr;77(4):283-9. PMID: 22445471

Therapy

Zhang X, Jin J, Cai C, Zheng R, Wang Y, Xu Y
Indian J Pharmacol 2016 May-Jun;48(3):321-3. doi: 10.4103/0253-7613.182889. PMID: 27298506Free PMC Article
Jackevicius CA, Wong J, Aroustamian I, Gee M, Mody FV
BMJ Open 2014;4(8):e005181. PMID: 25232564Free PMC Article
Batal I, Bijol V, Riella LV, Rennke HG
Am J Transplant 2013 Mar;13(3):817-8. doi: 10.1111/ajt.12012. PMID: 23437883
Adibelli Z, Woo E, Abt P, Goral S
Clin Nephrol 2012 Oct;78(4):322-4. PMID: 22981034
McQuade CR, Griego J, Anderson J, Pai AB
Am J Health Syst Pharm 2008 Jan 15;65(2):138-41. doi: 10.2146/ajhp070005. PMID: 18192258

Prognosis

Gallinat A, Leerhoff S, Paul A, Molmenti EP, Schulze M, Witzke O, Sotiropoulos GC
Langenbecks Arch Surg 2016 Dec;401(8):1211-1217. Epub 2016 Jun 8 doi: 10.1007/s00423-016-1445-9. PMID: 27270909
Chu X, Bleasby K, Chan GH, Nunes I, Evers R
Drug Metab Dispos 2016 Sep;44(9):1498-509. Epub 2016 Jan 29 doi: 10.1124/dmd.115.067694. PMID: 26825641
Panotopoulos J, Posch F, Funovics PT, Willegger M, Scharrer A, Lamm W, Brodowicz T, Windhager R, Ay C
J Orthop Res 2016 Mar;34(3):533-8. Epub 2015 Sep 8 doi: 10.1002/jor.23002. PMID: 26222652
Chung MH, Chu FY, Yang TM, Lin HJ, Chen JH, Guo HR, Vong SC, Su SB, Huang CC, Hsu CC
Geriatr Gerontol Int 2015 Jul;15(7):834-9. Epub 2014 Oct 10 doi: 10.1111/ggi.12355. PMID: 25302851
Chang YK, Lee SJ, Chung BH, Kim YO, Shin YS
Clin Nephrol 2012 Apr;77(4):283-9. PMID: 22445471

Clinical prediction guides

Zhang X, Jin J, Cai C, Zheng R, Wang Y, Xu Y
Indian J Pharmacol 2016 May-Jun;48(3):321-3. doi: 10.4103/0253-7613.182889. PMID: 27298506Free PMC Article
Gallinat A, Leerhoff S, Paul A, Molmenti EP, Schulze M, Witzke O, Sotiropoulos GC
Langenbecks Arch Surg 2016 Dec;401(8):1211-1217. Epub 2016 Jun 8 doi: 10.1007/s00423-016-1445-9. PMID: 27270909
Chu X, Bleasby K, Chan GH, Nunes I, Evers R
Drug Metab Dispos 2016 Sep;44(9):1498-509. Epub 2016 Jan 29 doi: 10.1124/dmd.115.067694. PMID: 26825641
Panotopoulos J, Posch F, Funovics PT, Willegger M, Scharrer A, Lamm W, Brodowicz T, Windhager R, Ay C
J Orthop Res 2016 Mar;34(3):533-8. Epub 2015 Sep 8 doi: 10.1002/jor.23002. PMID: 26222652
Chung MH, Chu FY, Yang TM, Lin HJ, Chen JH, Guo HR, Vong SC, Su SB, Huang CC, Hsu CC
Geriatr Gerontol Int 2015 Jul;15(7):834-9. Epub 2014 Oct 10 doi: 10.1111/ggi.12355. PMID: 25302851

Recent systematic reviews

Zhang Q, Li M, Zhang T, Chen J
PLoS One 2016;11(1):e0147347. Epub 2016 Jan 26 doi: 10.1371/journal.pone.0147347. PMID: 26812502Free PMC Article
Kari JA, Halawani M, Mokhtar G, Jalalah SM, Anshasi W
Saudi J Kidney Dis Transpl 2009 Sep;20(5):854-7. PMID: 19736491
Ripley TL
Ann Pharmacother 2005 Mar;39(3):460-9. Epub 2005 Feb 1 doi: 10.1345/aph.1E327. PMID: 15687480
Zafarmand AA, Baranowska-Daca E, Ly PD, Tsao CC, Choi YJ, Suki WN, Truong LD
Clin Transplant 2002 Oct;16(5):350-61. PMID: 12225432

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