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X-linked recessive nephrolithiasis with renal failure(XRN)

MedGen UID:
96047
Concept ID:
C0403720
Disease or Syndrome
Synonyms: NEPHROLITHIASIS 1; NEPHROLITHIASIS, X-LINKED RECESSIVE, TYPE 1; UROLITHIASIS, X-LINKED RECESSIVE, TYPE 1; XRN
SNOMED CT: X-linked recessive nephrolithiasis with renal failure (236713006)
 
Gene (location): CLCN5 (Xp11.23)
 
Monarch Initiative: MONDO:0010687
OMIM®: 310468

Definition

X-linked recessive nephrolithiasis with renal failure (XRN) is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009. [from OMIM]

Clinical features

From HPO
Hypercalciuria
MedGen UID:
43775
Concept ID:
C0020438
Finding
Abnormally high level of calcium in the urine.
Nephrocalcinosis
MedGen UID:
10222
Concept ID:
C0027709
Disease or Syndrome
Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
Glomerular sclerosis
MedGen UID:
61248
Concept ID:
C0178664
Disease or Syndrome
Accumulation of scar tissue within the glomerulus.
Microscopic hematuria
MedGen UID:
65997
Concept ID:
C0239937
Finding
Microscopic hematuria detected by dipstick or microscopic examination of the urine.
Nephrolithiasis
MedGen UID:
98227
Concept ID:
C0392525
Disease or Syndrome
The presence of calculi (stones) in the kidneys.
Chronic kidney disease
MedGen UID:
473458
Concept ID:
C1561643
Disease or Syndrome
Functional anomaly of the kidney persisting for at least three months.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Proximal tubulopathy
MedGen UID:
326534
Concept ID:
C1839603
Disease or Syndrome
Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.
Low-molecular-weight proteinuria
MedGen UID:
333360
Concept ID:
C1839606
Finding
Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).
Renal tubular atrophy
MedGen UID:
388054
Concept ID:
C1858395
Finding
The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.
Tubulointerstitial fibrosis
MedGen UID:
370652
Concept ID:
C1969372
Disease or Syndrome
A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy.

Professional guidelines

PubMed

Gefen AM, Sethna CB, Cil O, Perwad F, Schoettler M, Michael M, Angelo JR, Safdar A, Amlie-Wolf L, Hunley TE, Ellison JS, Feig D, Zaritsky J
Pediatr Nephrol 2023 Aug;38(8):2615-2622. Epub 2023 Jan 23 doi: 10.1007/s00467-023-05879-0. PMID: 36688940Free PMC Article

Recent clinical studies

Etiology

Zhang H, Wang C, Yue H, Hu WW, Gu JM, He JW, Fu WZ, Liu YJ, Zhang Z, Zhang ZL
Nephrology (Carlton) 2014 Feb;19(2):80-3. doi: 10.1111/nep.12179. PMID: 24428215
Schurman SJ, Norden AG, Scheinman SJ
J Pediatr 1998 May;132(5):859-62. doi: 10.1016/s0022-3476(98)70318-x. PMID: 9602200

Diagnosis

Gefen AM, Sethna CB, Cil O, Perwad F, Schoettler M, Michael M, Angelo JR, Safdar A, Amlie-Wolf L, Hunley TE, Ellison JS, Feig D, Zaritsky J
Pediatr Nephrol 2023 Aug;38(8):2615-2622. Epub 2023 Jan 23 doi: 10.1007/s00467-023-05879-0. PMID: 36688940Free PMC Article
Granhøj J, Tougaard B, Lildballe DL, Rasmussen M
Nephron 2022;146(1):49-57. Epub 2021 Aug 30 doi: 10.1159/000518175. PMID: 34515170
Cramer MT, Charlton JR, Fogo AB, Fathallah-Shaykh SA, Askenazi DJ, Guay-Woodford LM
Pediatr Nephrol 2014 Oct;29(10):2051-4. Epub 2014 May 9 doi: 10.1007/s00467-014-2824-5. PMID: 24810952
Claverie-Martín F, Ramos-Trujillo E, García-Nieto V
Pediatr Nephrol 2011 May;26(5):693-704. Epub 2010 Oct 10 doi: 10.1007/s00467-010-1657-0. PMID: 20936522
Schurman SJ, Norden AG, Scheinman SJ
J Pediatr 1998 May;132(5):859-62. doi: 10.1016/s0022-3476(98)70318-x. PMID: 9602200

Prognosis

Gefen AM, Sethna CB, Cil O, Perwad F, Schoettler M, Michael M, Angelo JR, Safdar A, Amlie-Wolf L, Hunley TE, Ellison JS, Feig D, Zaritsky J
Pediatr Nephrol 2023 Aug;38(8):2615-2622. Epub 2023 Jan 23 doi: 10.1007/s00467-023-05879-0. PMID: 36688940Free PMC Article
Reinhart SC, Norden AG, Lapsley M, Thakker RV, Pang J, Moses AM, Frymoyer PA, Favus MJ, Hoepner JA, Scheinman SJ
J Am Soc Nephrol 1995 Jan;5(7):1451-61. doi: 10.1681/ASN.V571451. PMID: 7703383

Clinical prediction guides

Gefen AM, Sethna CB, Cil O, Perwad F, Schoettler M, Michael M, Angelo JR, Safdar A, Amlie-Wolf L, Hunley TE, Ellison JS, Feig D, Zaritsky J
Pediatr Nephrol 2023 Aug;38(8):2615-2622. Epub 2023 Jan 23 doi: 10.1007/s00467-023-05879-0. PMID: 36688940Free PMC Article
Ludwig M, Utsch B, Balluch B, Fründ S, Kuwertz-Bröking E, Bökenkamp A
Pediatr Nephrol 2006 Sep;21(9):1241-50. Epub 2006 Jun 29 doi: 10.1007/s00467-006-0172-9. PMID: 16807762
Thakker RV
Kidney Int 2000 Mar;57(3):787-93. doi: 10.1046/j.1523-1755.2000.00916.x. PMID: 10720930
Reinhart SC, Norden AG, Lapsley M, Thakker RV, Pang J, Moses AM, Frymoyer PA, Favus MJ, Hoepner JA, Scheinman SJ
J Am Soc Nephrol 1995 Jan;5(7):1451-61. doi: 10.1681/ASN.V571451. PMID: 7703383
Scheinman SJ, Pook MA, Wooding C, Pang JT, Frymoyer PA, Thakker RV
J Clin Invest 1993 Jun;91(6):2351-7. doi: 10.1172/JCI116467. PMID: 8099916Free PMC Article

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