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Urolithiasis

MedGen UID:
141536
Concept ID:
C0451641
Disease or Syndrome
Synonyms: Lithiasis, Urinary; Urinary Lithiasis
SNOMED CT: Urolithiasis (95566004); Urinary calculus (95566004); Urinary stone (95566004); Urolith in urinary system (95566004)
 
HPO: HP:0034368
Monarch Initiative: MONDO:0024647

Definition

Renal stones are formed within the kidneys, and this is called nephrolithiasis. Urolithiasis is a condition that occurs when these stones exit the renal pelvis and move into the remainder of the urinary collecting system, which includes the ureters, bladder, and urethra. [from HPO]

Conditions with this feature

Adenine phosphoribosyltransferase deficiency
MedGen UID:
82772
Concept ID:
C0268120
Disease or Syndrome
Adenine phosphoribosyltransferase (APRT) deficiency is characterized by excessive production and renal excretion of 2,8-dihydroxyadenine (DHA), which leads to kidney stone formation and crystal-induced kidney damage (i.e., DHA crystal nephropathy) causing acute kidney injury episodes and progressive chronic kidney disease (CKD). Kidney stones, the most common clinical manifestation of APRT deficiency, can occur at any age; in at least 50% of affected persons symptoms do not occur until adulthood. If adequate treatment is not provided, approximately 20%-25% of affected individuals develop end-stage renal disease (ESRD), usually in adult life.
Dalmatian hypouricemia
MedGen UID:
141632
Concept ID:
C0473219
Disease or Syndrome
Renal hypouricemia is characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells. The syndrome is not lethal and may be asymptomatic. However, it is accompanied by nephrolithiasis and exercise-induced acute renal failure in about 10% of patients (Ichida et al., 2008). Genetic Heterogeneity of Renal Hypouricemia See also RHUC2 (612076), which is caused by mutation in the SLC2A9 gene (606142).
Finnish type amyloidosis
MedGen UID:
301243
Concept ID:
C1622345
Disease or Syndrome
The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including lattice corneal dystrophy, and cranial neuropathy, bulbar signs, and skin changes. Some patients may develop peripheral neuropathy and renal failure. The disorder is usually inherited in an autosomal dominant pattern; however, homozygotes with a more severe phenotype have also been reported (Meretoja, 1973). Finnish hereditary amyloidosis, also known as Meretoja syndrome or AGel amyloidosis, is one of the most common diseases in the Finnish disease heritage. Symptoms commonly appear by age 40, with the first finding usually corneal lattice dystrophy (CLD), diagnosed by an ophthalmologist. Impaired vision, polyneuropathy, facial nerve paresis, and cutis laxa follow. These symptoms may develop slowly and simultaneously, since amyloid accumulates systemically at a constant rate (summary by Nikoskinen et al., 2015). For a discussion of genetic heterogeneity of hereditary systemic amyloidosis, see AMYLD1 (105210).
Phosphoribosylpyrophosphate synthetase superactivity
MedGen UID:
370358
Concept ID:
C1970827
Disease or Syndrome
Phosphoribosylpyrophosphate synthetase (PRS) superactivity comprises two phenotypes, both characterized by hyperuricemia and hyperuricosuria. The mild phenotype (~75% of affected males) with onset in the second or third decade of life is typically limited to these biochemical findings, whereas the severe phenotype (~25% of affected males) with onset in the first decade of life has in addition to these biochemical findings variable combinations of developmental delay (DD) / intellectual disability (ID), sensorineural hearing loss, hypotonia, and ataxia. In the mild phenotype, uric acid crystalluria or a urinary stone is commonly the first clinical finding, followed later by gouty arthritis if serum urate concentration is not controlled.

Professional guidelines

PubMed

Kachkoul R, Touimi GB, El Mouhri G, El Habbani R, Mohim M, Lahrichi A
Malays J Pathol 2023 Dec;45(3):333-352. PMID: 38155376
Demoulin N, Aydin S, Gillion V, Morelle J, Jadoul M
Am J Kidney Dis 2022 May;79(5):717-727. Epub 2021 Sep 9 doi: 10.1053/j.ajkd.2021.07.018. PMID: 34508834
Türk C, Petřík A, Sarica K, Seitz C, Skolarikos A, Straub M, Knoll T
Eur Urol 2016 Mar;69(3):468-74. Epub 2015 Aug 28 doi: 10.1016/j.eururo.2015.07.040. PMID: 26318710

Recent clinical studies

Etiology

Messa P, Castellano G, Vettoretti S, Alfieri CM, Giannese D, Panichi V, Cupisti A
Nutrients 2023 Mar 31;15(7) doi: 10.3390/nu15071724. PMID: 37049567Free PMC Article
Wagner CA
Arch Esp Urol 2021 Jan;74(1):16-23. PMID: 33459618
Chimenz R, Cannavò L, Viola V, Di Benedetto V, Scuderi MG, Pensabene L, Salvo V, D'Angelo G, Stroscio G, Impollonia D, Concolino D, Fede C, Alibrandi A, Cuppari C
J Biol Regul Homeost Agents 2019 Sep-Oct;33(5 Suppl. 1):39-44. Special Issue: Focus on Pediatric Nephrology. PMID: 31630712
Sarica K
Curr Opin Urol 2019 Jan;29(1):27-32. doi: 10.1097/MOU.0000000000000557. PMID: 30308572
Chung MJ
JAAPA 2017 Sep;30(9):49-50. doi: 10.1097/01.JAA.0000522145.52305.aa. PMID: 28858017

Diagnosis

Kachkoul R, Touimi GB, El Mouhri G, El Habbani R, Mohim M, Lahrichi A
Malays J Pathol 2023 Dec;45(3):333-352. PMID: 38155376
Quhal F, Seitz C
Curr Opin Urol 2021 Mar 1;31(2):125-129. doi: 10.1097/MOU.0000000000000855. PMID: 33399368
Corbo J, Wang J
Emerg Med Clin North Am 2019 Nov;37(4):637-648. Epub 2019 Aug 19 doi: 10.1016/j.emc.2019.07.004. PMID: 31563199
Doizi S, Traxer O
Urolithiasis 2018 Feb;46(1):47-58. Epub 2017 Dec 8 doi: 10.1007/s00240-017-1030-x. PMID: 29222575
Türk C, Petřík A, Sarica K, Seitz C, Skolarikos A, Straub M, Knoll T
Eur Urol 2016 Mar;69(3):468-74. Epub 2015 Aug 28 doi: 10.1016/j.eururo.2015.07.040. PMID: 26318710

Therapy

Wu H, Liu P, Gong S, Liu X, Hill MA, Liu Z, Xu M, Xu C
Eur J Med Res 2023 May 12;28(1):167. doi: 10.1186/s40001-023-01128-0. PMID: 37173785Free PMC Article
Messa P, Castellano G, Vettoretti S, Alfieri CM, Giannese D, Panichi V, Cupisti A
Nutrients 2023 Mar 31;15(7) doi: 10.3390/nu15071724. PMID: 37049567Free PMC Article
Tu JF, Cao Y, Wang LQ, Shi GX, Jia LC, Liu BL, Yao WH, Pei XL, Cao Y, Li HW, Yan SY, Yang JW, Qu ZC, Liu CZ
JAMA Netw Open 2022 Aug 1;5(8):e2225735. doi: 10.1001/jamanetworkopen.2022.25735. PMID: 35943743Free PMC Article
Balasubramanian P, Wanner C, Ferreira JP, Ofstad AP, Elsaesser A, Zinman B, Inzucchi SE
J Clin Endocrinol Metab 2022 Jun 16;107(7):e3003-e3007. doi: 10.1210/clinem/dgac154. PMID: 35290464Free PMC Article
Chimenz R, Cannavò L, Viola V, Di Benedetto V, Scuderi MG, Pensabene L, Salvo V, D'Angelo G, Stroscio G, Impollonia D, Concolino D, Fede C, Alibrandi A, Cuppari C
J Biol Regul Homeost Agents 2019 Sep-Oct;33(5 Suppl. 1):39-44. Special Issue: Focus on Pediatric Nephrology. PMID: 31630712

Prognosis

Panzarino V
Adv Pediatr 2020 Aug;67:105-112. Epub 2020 May 26 doi: 10.1016/j.yapd.2020.03.004. PMID: 32591054
Sorokin I, Mamoulakis C, Miyazawa K, Rodgers A, Talati J, Lotan Y
World J Urol 2017 Sep;35(9):1301-1320. Epub 2017 Feb 17 doi: 10.1007/s00345-017-2008-6. PMID: 28213860
Yasui T, Okada A, Hamamoto S, Ando R, Taguchi K, Tozawa K, Kohri K
Int J Urol 2017 Jan;24(1):32-38. Epub 2016 Aug 18 doi: 10.1111/iju.13187. PMID: 27539983
Besiroglu H, Otunctemur A, Ozbek E
Ren Fail 2015 Feb;37(1):1-6. Epub 2014 Oct 29 doi: 10.3109/0886022X.2014.976133. PMID: 25353628
Seitz C, Fajkovic H
World J Urol 2013 Oct;31(5):1087-92. Epub 2013 Aug 13 doi: 10.1007/s00345-013-1140-1. PMID: 23942884

Clinical prediction guides

Wu H, Liu P, Gong S, Liu X, Hill MA, Liu Z, Xu M, Xu C
Eur J Med Res 2023 May 12;28(1):167. doi: 10.1186/s40001-023-01128-0. PMID: 37173785Free PMC Article
Tu JF, Cao Y, Wang LQ, Shi GX, Jia LC, Liu BL, Yao WH, Pei XL, Cao Y, Li HW, Yan SY, Yang JW, Qu ZC, Liu CZ
JAMA Netw Open 2022 Aug 1;5(8):e2225735. doi: 10.1001/jamanetworkopen.2022.25735. PMID: 35943743Free PMC Article
Abufaraj M, Al Karmi J, Yang L
Curr Opin Urol 2022 Jul 1;32(4):425-432. Epub 2022 Jun 9 doi: 10.1097/MOU.0000000000000994. PMID: 35703251
Yasui T, Okada A, Hamamoto S, Ando R, Taguchi K, Tozawa K, Kohri K
Int J Urol 2017 Jan;24(1):32-38. Epub 2016 Aug 18 doi: 10.1111/iju.13187. PMID: 27539983
Türk C, Petřík A, Sarica K, Seitz C, Skolarikos A, Straub M, Knoll T
Eur Urol 2016 Mar;69(3):468-74. Epub 2015 Aug 28 doi: 10.1016/j.eururo.2015.07.040. PMID: 26318710

Recent systematic reviews

Twitchell DK, Pastuszak AW, Khera M
Sex Med Rev 2021 Jan;9(1):149-159. Epub 2020 Dec 9 doi: 10.1016/j.sxmr.2020.09.004. PMID: 33309270
Servais A, Thomas K, Dello Strologo L, Sayer JA, Bekri S, Bertholet-Thomas A, Bultitude M, Capolongo G, Cerkauskiene R, Daudon M, Doizi S, Gillion V, Gràcia-Garcia S, Halbritter J, Heidet L, van den Heijkant M, Lemoine S, Knebelmann B, Emma F, Levtchenko E; Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN
Kidney Int 2021 Jan;99(1):48-58. Epub 2020 Sep 9 doi: 10.1016/j.kint.2020.06.035. PMID: 32918941
Chugh S, Pietropaolo A, Montanari E, Sarica K, Somani BK
Curr Urol Rep 2020 Mar 24;21(4):16. doi: 10.1007/s11934-020-0969-2. PMID: 32211969
Carbone A, Al Salhi Y, Tasca A, Palleschi G, Fuschi A, De Nunzio C, Bozzini G, Mazzaferro S, Pastore AL
Minerva Urol Nefrol 2018 Aug;70(4):393-400. Epub 2018 May 31 doi: 10.23736/S0393-2249.18.03113-2. PMID: 29856171
Pathan SA, Mitra B, Cameron PA
Eur Urol 2018 Apr;73(4):583-595. Epub 2017 Nov 22 doi: 10.1016/j.eururo.2017.11.001. PMID: 29174580

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