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Tubulointerstitial nephritis

MedGen UID:
11952
Concept ID:
C0041349
Disease or Syndrome
Synonym: Interstitial nephritis
SNOMED CT: Tubulo-interstitial nephritis (428255004); Tubulointerstitial nephritis (428255004); Interstitial nephritis (428255004); Tubulointerstitial nephropathy (428255004); Renal tubulo-interstitial disease (428255004)
 
HPO: HP:0001970
Monarch Initiative: MONDO:0001085
OMIM®: 590070

Definition

A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. [from HPO]

Conditions with this feature

Alstrom syndrome
MedGen UID:
78675
Concept ID:
C0268425
Disease or Syndrome
Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive bilateral sensorineural hearing impairment, acute infantile-onset cardiomyopathy and/or adolescent- or adult-onset restrictive cardiomyopathy, insulin resistance / type 2 diabetes mellitus (T2DM), nonalcoholic fatty liver disease (NAFLD), and chronic progressive kidney disease. Cone-rod dystrophy presents as progressive visual impairment, photophobia, and nystagmus usually starting between birth and age 15 months. Many individuals lose all perception of light by the end of the second decade, but a minority retain the ability to read large print into the third decade. Children usually have normal birth weight but develop truncal obesity during their first year. Sensorineural hearing loss presents in the first decade in as many as 70% of individuals and may progress to the severe or moderately severe range (40-70 db) by the end of the first to second decade. Insulin resistance is typically accompanied by the skin changes of acanthosis nigricans, and proceeds to T2DM in the majority by the third decade. Nearly all demonstrate hypertriglyceridemia. Other findings can include endocrine abnormalities (hypothyroidism, hypogonadotropic hypogonadism in males, and hyperandrogenism in females), urologic dysfunction / detrusor instability, progressive decrease in renal function, and hepatic disease (ranging from elevated transaminases to steatohepatitis/NAFLD). Approximately 20% of affected individuals have delay in early developmental milestones, most commonly in gross and fine motor skills. About 30% have a learning disability. Cognitive impairment (IQ <70) is very rare. Wide clinical variability is observed among affected individuals, even within the same family.
Cranioectodermal dysplasia 1
MedGen UID:
96586
Concept ID:
C0432235
Disease or Syndrome
Cranioectodermal dysplasia (CED) is a ciliopathy with skeletal involvement (narrow thorax, shortened proximal limbs, syndactyly, polydactyly, brachydactyly), ectodermal features (widely spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth deficiency, and characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus, epicanthal folds, full cheeks, everted lower lip). Most affected children develop nephronophthisis that often leads to end-stage kidney disease in infancy or childhood, a major cause of morbidity and mortality. Hepatic fibrosis and retinal dystrophy are also observed. Dolichocephaly, often secondary to sagittal craniosynostosis, is a primary manifestation that distinguishes CED from most other ciliopathies. Brain malformations and developmental delay may also occur.
Sjogren syndrome
MedGen UID:
282890
Concept ID:
C1527336
Disease or Syndrome
Sjogren syndrome is an autoimmune disease that mainly affects the exocrine glands. It is clinically characterized by keratoconjunctivitis sicca and xerostomia (Goransson et al., 2006). See 200400 for association of Sjogren syndrome with achalasia in sisters.
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
MedGen UID:
344424
Concept ID:
C1855114
Disease or Syndrome
For this GeneReview, the term "isolated methylmalonic acidemia" refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in the blood and urine that result from the failure to isomerize (convert) methylmalonyl-coenzyme A (CoA) into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix, without hyperhomocysteinemia or homocystinuria, hypomethioninemia, or variations in other metabolites, such as malonic acid. Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Prior to the advent of newborn screening, common phenotypes included: Infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds. Without appropriate treatment, the infantile/non-B12-responsive phenotype could rapidly progress to coma due to hyperammonemic encephalopathy. Partially deficient or B12-responsive phenotypes (mut– enzymatic subtype, cblA, cblB [rare], cblD-MMA), in which symptoms occur in the first few months or years of life and are characterized by feeding problems, failure to thrive, hypotonia, and developmental delay marked by episodes of metabolic decompensation. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer.
Tubulointerstitial kidney disease, autosomal dominant, 2
MedGen UID:
358137
Concept ID:
C1868139
Disease or Syndrome
Autosomal dominant tubulointerstitial kidney disease – MUC1 (ADTKD-MUC1) is characterized by slowly progressive tubulointerstitial disease that leads to end-stage renal disease (ESRD) and the need for dialysis or kidney transplantation. The rate of loss of kidney function for individuals is variable within and between families, with a median age of onset of end-stage renal disease (ESRD) of 46 years (range: ages 20-70 years). There are no other systemic manifestations.
Mitochondrial complex III deficiency nuclear type 1
MedGen UID:
762097
Concept ID:
C3541471
Disease or Syndrome
Autosomal recessive mitochondrial complex III deficiency is a severe multisystem disorder with onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development. Visceral involvement, including hepatopathy and renal tubulopathy, may also occur. Many patients die in early childhood, but some may show longer survival (de Lonlay et al., 2001; De Meirleir et al., 2003). Genetic Heterogeneity of Mitochondrial Complex III Deficiency Mitochondrial complex III deficiency can be caused by mutation in several different nuclear-encoded genes. See MC3DN2 (615157), caused by mutation in the TTC19 gene (613814) on chromosome 17p12; MC3DN3 (615158), caused by mutation in the UQCRB gene (191330) on chromosome 8q; MC3DN4 (615159), caused by mutation in the UQCRQ gene (612080) on chromosome 5q31; MC3DN5 (615160), caused by mutation in the UQCRC2 gene (191329) on chromosome 16p12; MC3DN6 (615453), caused by mutation in the CYC1 gene (123980) on chromosome 8q24; MC3DN7 (615824), caused by mutation in the UQCC2 gene (614461) on chromosome 6p21; MC3DN8 (615838), caused by mutation in the LYRM7 gene (615831) on chromosome 5q23; MC3DN9 (616111), caused by mutation in the UQCC3 gene (616097) on chromosome 11q12; and MC3DN10 (618775), caused by mutation in the UQCRFS1 gene (191327) on chromosome 19q12. See also MTYCB (516020) for a discussion of a milder phenotype associated with isolated mitochondrial complex III deficiency and mutations in a mitochondrial-encoded gene.
Karyomegalic interstitial nephritis
MedGen UID:
766688
Concept ID:
C3553774
Disease or Syndrome
Karyomegalic tubulointerstitial nephritis (KMIN) 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).
Nephronophthisis 18
MedGen UID:
855697
Concept ID:
C3890591
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 recognized: 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).
Senior-Loken syndrome 9
MedGen UID:
899086
Concept ID:
C4225263
Disease or Syndrome
Senior-Loken syndrome-9 is an autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. Additional more variable features can include liver defects, skeletal anomalies, and obesity (summary by Bizet et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900.
Developmental delay with short stature, dysmorphic facial features, and sparse hair
MedGen UID:
934768
Concept ID:
C4310801
Disease or Syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypoplastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement.
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
MedGen UID:
1621949
Concept ID:
C4539828
Disease or Syndrome
Birk-Landau-Perez syndrome (BILAPES) is an autosomal recessive syndromic developmental disorder characterized by global developmental delay apparent from infancy or early childhood. Some patients have developmental regression with loss of speech and motor skills, whereas other patients never achieve these milestones. More variable features may include hypotonia, poor overall growth, ataxia, dystonia, abnormal eye movements, and renal insufficiency (Perez et al., 2017; Kleyner et al., 2022).
Combined oxidative phosphorylation defect type 9
MedGen UID:
1634481
Concept ID:
C4706315
Disease or Syndrome
A rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V. Caused by compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.

Professional guidelines

PubMed

Mbengue M, Goumri N, Niang A
Clin Nephrol 2021 Jun;95(6):292-302. doi: 10.5414/CN110492. PMID: 33860756
Joyce E, Glasner P, Ranganathan S, Swiatecka-Urban A
Pediatr Nephrol 2017 Apr;32(4):577-587. Epub 2016 May 7 doi: 10.1007/s00467-016-3394-5. PMID: 27155873Free PMC Article
McMahon BA, Novick T, Scheel PJ, Bagnasco S, Atta MG
Medicine (Baltimore) 2015 Aug;94(32):e1366. doi: 10.1097/MD.0000000000001366. PMID: 26266393Free PMC Article

Recent clinical studies

Etiology

Kan WC, Chen YC, Wu VC, Shiao CC
Int J Mol Sci 2022 Feb 12;23(4) doi: 10.3390/ijms23042052. PMID: 35216167Free PMC Article
Gupta S, Portales-Castillo I, Daher A, Kitchlu A
Adv Chronic Kidney Dis 2021 Sep;28(5):402-414.e1. doi: 10.1053/j.ackd.2021.08.001. PMID: 35190107
Cortazar FB, Kibbelaar ZA, Glezerman IG, Abudayyeh A, Mamlouk O, Motwani SS, Murakami N, Herrmann SM, Manohar S, Shirali AC, Kitchlu A, Shirazian S, Assal A, Vijayan A, Renaghan AD, Ortiz-Melo DI, Rangarajan S, Malik AB, Hogan JJ, Dinh AR, Shin DS, Marrone KA, Mithani Z, Johnson DB, Hosseini A, Uprety D, Sharma S, Gupta S, Reynolds KL, Sise ME, Leaf DE
J Am Soc Nephrol 2020 Feb;31(2):435-446. Epub 2020 Jan 2 doi: 10.1681/ASN.2019070676. PMID: 31896554Free PMC Article
Amaro D, Carreño E, Steeples LR, Oliveira-Ramos F, Marques-Neves C, Leal I
Br J Ophthalmol 2020 Jun;104(6):742-747. Epub 2019 Nov 12 doi: 10.1136/bjophthalmol-2019-314926. PMID: 31719109
François H, Mariette X
Nat Rev Nephrol 2016 Feb;12(2):82-93. Epub 2015 Nov 16 doi: 10.1038/nrneph.2015.174. PMID: 26568188

Diagnosis

Mbengue M, Goumri N, Niang A
Clin Nephrol 2021 Jun;95(6):292-302. doi: 10.5414/CN110492. PMID: 33860756
Maritati F, Peyronel F, Vaglio A
Rheumatology (Oxford) 2020 May 1;59(Suppl 3):iii123-iii131. doi: 10.1093/rheumatology/kez667. PMID: 32348524
Amaro D, Carreño E, Steeples LR, Oliveira-Ramos F, Marques-Neves C, Leal I
Br J Ophthalmol 2020 Jun;104(6):742-747. Epub 2019 Nov 12 doi: 10.1136/bjophthalmol-2019-314926. PMID: 31719109
Ambruzs JM, Larsen CP
Rheum Dis Clin North Am 2018 Nov;44(4):699-714. Epub 2018 Sep 7 doi: 10.1016/j.rdc.2018.06.007. PMID: 30274631
Joyce E, Glasner P, Ranganathan S, Swiatecka-Urban A
Pediatr Nephrol 2017 Apr;32(4):577-587. Epub 2016 May 7 doi: 10.1007/s00467-016-3394-5. PMID: 27155873Free PMC Article

Therapy

Gupta S, Portales-Castillo I, Daher A, Kitchlu A
Adv Chronic Kidney Dis 2021 Sep;28(5):402-414.e1. doi: 10.1053/j.ackd.2021.08.001. PMID: 35190107
Drożdżal S, Lechowicz K, Szostak B, Rosik J, Kotfis K, Machoy-Mokrzyńska A, Białecka M, Ciechanowski K, Gawrońska-Szklarz B
Pharmacol Res Perspect 2021 Aug;9(4):e00817. doi: 10.1002/prp2.817. PMID: 34310861Free PMC Article
Mbengue M, Goumri N, Niang A
Clin Nephrol 2021 Jun;95(6):292-302. doi: 10.5414/CN110492. PMID: 33860756
Ruebner RL, Fadrowski JJ
Pediatr Clin North Am 2019 Feb;66(1):111-119. doi: 10.1016/j.pcl.2018.08.009. PMID: 30454737
Joyce E, Glasner P, Ranganathan S, Swiatecka-Urban A
Pediatr Nephrol 2017 Apr;32(4):577-587. Epub 2016 May 7 doi: 10.1007/s00467-016-3394-5. PMID: 27155873Free PMC Article

Prognosis

Cortazar FB, Kibbelaar ZA, Glezerman IG, Abudayyeh A, Mamlouk O, Motwani SS, Murakami N, Herrmann SM, Manohar S, Shirali AC, Kitchlu A, Shirazian S, Assal A, Vijayan A, Renaghan AD, Ortiz-Melo DI, Rangarajan S, Malik AB, Hogan JJ, Dinh AR, Shin DS, Marrone KA, Mithani Z, Johnson DB, Hosseini A, Uprety D, Sharma S, Gupta S, Reynolds KL, Sise ME, Leaf DE
J Am Soc Nephrol 2020 Feb;31(2):435-446. Epub 2020 Jan 2 doi: 10.1681/ASN.2019070676. PMID: 31896554Free PMC Article
Amaro D, Carreño E, Steeples LR, Oliveira-Ramos F, Marques-Neves C, Leal I
Br J Ophthalmol 2020 Jun;104(6):742-747. Epub 2019 Nov 12 doi: 10.1136/bjophthalmol-2019-314926. PMID: 31719109
Ruebner RL, Fadrowski JJ
Pediatr Clin North Am 2019 Feb;66(1):111-119. doi: 10.1016/j.pcl.2018.08.009. PMID: 30454737
Joyce E, Glasner P, Ranganathan S, Swiatecka-Urban A
Pediatr Nephrol 2017 Apr;32(4):577-587. Epub 2016 May 7 doi: 10.1007/s00467-016-3394-5. PMID: 27155873Free PMC Article
François H, Mariette X
Nat Rev Nephrol 2016 Feb;12(2):82-93. Epub 2015 Nov 16 doi: 10.1038/nrneph.2015.174. PMID: 26568188

Clinical prediction guides

Kan WC, Chen YC, Wu VC, Shiao CC
Int J Mol Sci 2022 Feb 12;23(4) doi: 10.3390/ijms23042052. PMID: 35216167Free PMC Article
Gupta S, Short SAP, Sise ME, Prosek JM, Madhavan SM, Soler MJ, Ostermann M, Herrmann SM, Abudayyeh A, Anand S, Glezerman I, Motwani SS, Murakami N, Wanchoo R, Ortiz-Melo DI, Rashidi A, Sprangers B, Aggarwal V, Malik AB, Loew S, Carlos CA, Chang WT, Beckerman P, Mithani Z, Shah CV, Renaghan AD, Seigneux S, Campedel L, Kitchlu A, Shin DS, Rangarajan S, Deshpande P, Coppock G, Eijgelsheim M, Seethapathy H, Lee MD, Strohbehn IA, Owen DH, Husain M, Garcia-Carro C, Bermejo S, Lumlertgul N, Seylanova N, Flanders L, Isik B, Mamlouk O, Lin JS, Garcia P, Kaghazchi A, Khanin Y, Kansal SK, Wauters E, Chandra S, Schmidt-Ott KM, Hsu RK, Tio MC, Sarvode Mothi S, Singh H, Schrag D, Jhaveri KD, Reynolds KL, Cortazar FB, Leaf DE; ICPi-AKI Consortium Investigators
J Immunother Cancer 2021 Oct;9(10) doi: 10.1136/jitc-2021-003467. PMID: 34625513Free PMC Article
Franzin R, Netti GS, Spadaccino F, Porta C, Gesualdo L, Stallone G, Castellano G, Ranieri E
Front Immunol 2020;11:574271. Epub 2020 Oct 8 doi: 10.3389/fimmu.2020.574271. PMID: 33162990Free PMC Article
Quattrocchio G, Roccatello D
J Nephrol 2016 Aug;29(4):487-93. Epub 2016 Mar 14 doi: 10.1007/s40620-016-0279-4. PMID: 26972314
Dillon MJ, Eleftheriou D, Brogan PA
Pediatr Nephrol 2010 Sep;25(9):1641-52. Epub 2009 Nov 28 doi: 10.1007/s00467-009-1336-1. PMID: 19946711Free PMC Article

Recent systematic reviews

Southgate G, Clarke P, Harmer MJ
J Nephrol 2023 Mar;36(2):507-519. Epub 2022 Nov 18 doi: 10.1007/s40620-022-01478-8. PMID: 36396848
Moss JG, Parry CM, Holt RCL, McWilliam SJ
Eur J Med Res 2022 Apr 29;27(1):61. doi: 10.1186/s40001-022-00687-y. PMID: 35488310Free PMC Article
Regusci A, Lava SAG, Milani GP, Bianchetti MG, Simonetti GD, Vanoni F
Nephrol Dial Transplant 2022 Apr 25;37(5):876-886. doi: 10.1093/ndt/gfab030. PMID: 33561271
Martínez-Valenzuela L, Draibe J, Fulladosa X, Gomà M, Gómez F, Antón P, Cruzado JM, Torras J
Int J Mol Sci 2021 Feb 26;22(5) doi: 10.3390/ijms22052326. PMID: 33652638Free PMC Article
Okafor LO, Hewins P, Murray PI, Denniston AK
Orphanet J Rare Dis 2017 Jul 14;12(1):128. doi: 10.1186/s13023-017-0677-2. PMID: 28709457Free PMC Article

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