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Thickening of the tubular basement membrane

MedGen UID:
343407
Concept ID:
C1855682
Finding
Synonym: Thickened tubular basement membrane
 
HPO: HP:0020132

Definition

Increase in thickness of the basement membrane of the tubulus of the kidney. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThickening of the tubular basement membrane

Conditions with this feature

Senior-Loken syndrome 1
MedGen UID:
1639722
Concept ID:
C4551559
Disease or Syndrome
Leber congenital amaurosis primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. This condition causes vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). Some people with Senior-Løken syndrome develop the signs of Leber congenital amaurosis within the first few years of life, while others do not develop vision problems until later in childhood.\n\nNephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood. These cysts impair kidney function, initially causing increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). Nephronophthisis leads to end-stage renal disease (ESRD) later in childhood or in adolescence. ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively.\n\nSenior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.

Professional guidelines

Recent clinical studies

Etiology

Singh J, Jain A, Bhamra R, Rathi V, Dhingra AK
Curr Drug Targets 2023;24(2):104-117. doi: 10.2174/1389450124666221026152647. PMID: 36305150
Fountoulakis N, Lioudaki E, Lygerou D, Dermitzaki EK, Papakitsou I, Kounali V, Holleboom AG, Stratigis S, Belogianni C, Syngelaki P, Stratakis S, Evangeliou A, Gakiopoulou H, Kuivenhoven JA, Wevers R, Dafnis E, Stylianou K
Am J Kidney Dis 2019 Oct;74(4):510-522. Epub 2019 May 15 doi: 10.1053/j.ajkd.2019.03.422. PMID: 31103331
Fischer RSB, Vangala C, Truong L, Mandayam S, Chavarria D, Granera Llanes OM, Fonseca Laguna MU, Guerra Baez A, Garcia F, García-Trabanino R, Murray KO
Kidney Int 2018 Mar;93(3):681-690. Epub 2017 Nov 20 doi: 10.1016/j.kint.2017.09.012. PMID: 29162294
Slaats GG, Lilien MR, Giles RH
Pediatr Nephrol 2016 Apr;31(4):545-54. Epub 2015 Jul 29 doi: 10.1007/s00467-015-3162-y. PMID: 26219413
Dalla Vestra M, Saller A, Bortoloso E, Mauer M, Fioretto P
Diabetes Metab 2000 Jul;26 Suppl 4:8-14. PMID: 10922968

Diagnosis

Fischer RSB, Vangala C, Truong L, Mandayam S, Chavarria D, Granera Llanes OM, Fonseca Laguna MU, Guerra Baez A, Garcia F, García-Trabanino R, Murray KO
Kidney Int 2018 Mar;93(3):681-690. Epub 2017 Nov 20 doi: 10.1016/j.kint.2017.09.012. PMID: 29162294
Slaats GG, Lilien MR, Giles RH
Pediatr Nephrol 2016 Apr;31(4):545-54. Epub 2015 Jul 29 doi: 10.1007/s00467-015-3162-y. PMID: 26219413
Takeda A, Horike K, Ohtsuka Y, Inaguma D, Goto N, Watarai Y, Uchida K, Morozumi K
Clin Transplant 2011 Jul;25 Suppl 23:2-5. doi: 10.1111/j.1399-0012.2011.01451.x. PMID: 21623906
Glassock RJ
Semin Nephrol 2003 Jul;23(4):324-32. doi: 10.1016/s0270-9295(03)00049-4. PMID: 12923720
Mihatsch MJ, Zollinger HU
Pathol Res Pract 1980 May;167(1):88-117. doi: 10.1016/S0344-0338(80)80183-X. PMID: 7454603

Therapy

Van Krieken R, Marway M, Parthasarathy P, Mehta N, Ingram AJ, Gao B, Krepinsky JC
Endocrinology 2018 Mar 1;159(3):1479-1495. doi: 10.1210/en.2018-00093. PMID: 29420703
Slaats GG, Lilien MR, Giles RH
Pediatr Nephrol 2016 Apr;31(4):545-54. Epub 2015 Jul 29 doi: 10.1007/s00467-015-3162-y. PMID: 26219413
Kashihara N, Haruna Y, Kondeti VK, Kanwar YS
Curr Med Chem 2010;17(34):4256-69. doi: 10.2174/092986710793348581. PMID: 20939814Free PMC Article
Fotheringham J, Angel CA, McKane W
Nephron Clin Pract 2009;113(1):c1-7; discussion c7. Epub 2009 Jul 10 doi: 10.1159/000228069. PMID: 19590229
Braverman IM, Ken-Yen A
J Invest Dermatol 1983 Dec;81(6):489-97. doi: 10.1111/1523-1747.ep12522736. PMID: 6417247

Prognosis

Fountoulakis N, Lioudaki E, Lygerou D, Dermitzaki EK, Papakitsou I, Kounali V, Holleboom AG, Stratigis S, Belogianni C, Syngelaki P, Stratakis S, Evangeliou A, Gakiopoulou H, Kuivenhoven JA, Wevers R, Dafnis E, Stylianou K
Am J Kidney Dis 2019 Oct;74(4):510-522. Epub 2019 May 15 doi: 10.1053/j.ajkd.2019.03.422. PMID: 31103331
Fischer RSB, Vangala C, Truong L, Mandayam S, Chavarria D, Granera Llanes OM, Fonseca Laguna MU, Guerra Baez A, Garcia F, García-Trabanino R, Murray KO
Kidney Int 2018 Mar;93(3):681-690. Epub 2017 Nov 20 doi: 10.1016/j.kint.2017.09.012. PMID: 29162294
Luo C, Chen D, Tang Z, Zhou Y, Wang J, Liu Z, Li L
Nephrology (Carlton) 2010 Sep;15(6):625-31. doi: 10.1111/j.1440-1797.2010.01352.x. PMID: 20883283
Wolf G, Ziyadeh FN
Nephron Physiol 2007;106(2):p26-31. Epub 2007 Jun 6 doi: 10.1159/000101797. PMID: 17570945
Glassock RJ
Semin Nephrol 2003 Jul;23(4):324-32. doi: 10.1016/s0270-9295(03)00049-4. PMID: 12923720

Clinical prediction guides

Fountoulakis N, Lioudaki E, Lygerou D, Dermitzaki EK, Papakitsou I, Kounali V, Holleboom AG, Stratigis S, Belogianni C, Syngelaki P, Stratakis S, Evangeliou A, Gakiopoulou H, Kuivenhoven JA, Wevers R, Dafnis E, Stylianou K
Am J Kidney Dis 2019 Oct;74(4):510-522. Epub 2019 May 15 doi: 10.1053/j.ajkd.2019.03.422. PMID: 31103331
Fischer RSB, Vangala C, Truong L, Mandayam S, Chavarria D, Granera Llanes OM, Fonseca Laguna MU, Guerra Baez A, Garcia F, García-Trabanino R, Murray KO
Kidney Int 2018 Mar;93(3):681-690. Epub 2017 Nov 20 doi: 10.1016/j.kint.2017.09.012. PMID: 29162294
Chen D, Tang Z, Luo C, Chen H, Liu Z
Clin Nephrol 2012 Jul;78(1):54-60. doi: 10.5414/cn107414. PMID: 22732338
Noël LH
Ren Fail 2000 Nov;22(6):751-8. doi: 10.1081/jdi-100101960. PMID: 11104162
Braverman IM, Ken-Yen A
J Invest Dermatol 1983 Dec;81(6):489-97. doi: 10.1111/1523-1747.ep12522736. PMID: 6417247

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