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Global glomerulosclerosis

MedGen UID:
355432
Concept ID:
C1865276
Finding
HPO: HP:0004737

Definition

Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%. [from HPO]

Term Hierarchy

Conditions with this feature

Bartter disease type 4A
MedGen UID:
355430
Concept ID:
C1865270
Disease or Syndrome
Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, 607364) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.
Ogden syndrome
MedGen UID:
477078
Concept ID:
C3275447
Disease or Syndrome
Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).
Nephronophthisis 13
MedGen UID:
482242
Concept ID:
C3280612
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 8
MedGen UID:
905171
Concept ID:
C4225376
Disease or Syndrome
Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene.

Professional guidelines

PubMed

Goto S, Oguchi H, Sakai K, Mikami T, Ichikawa D, Yazawa M, Koike J, Furuichi K, Kawabata M, Yokoyama H, Sofue T, Ibuki E, Nishi S
J Nephrol 2022 Sep;35(7):1809-1818. Epub 2022 Jan 22 doi: 10.1007/s40620-021-01228-2. PMID: 35064519
Hao X, Xie J, Ma J, Wang Z, Zhou Q, Yang L, Pan X, Ren H, Chen N
Contrib Nephrol 2013;181:101-8. Epub 2013 May 8 doi: 10.1159/000348462. PMID: 23689572
McGregor DO, Lynn KL, Bailey RR, Robson RA, Gardner J
Clin Nephrol 1998 Jun;49(6):345-8. PMID: 9696429

Recent clinical studies

Therapy

Goto S, Oguchi H, Sakai K, Mikami T, Ichikawa D, Yazawa M, Koike J, Furuichi K, Kawabata M, Yokoyama H, Sofue T, Ibuki E, Nishi S
J Nephrol 2022 Sep;35(7):1809-1818. Epub 2022 Jan 22 doi: 10.1007/s40620-021-01228-2. PMID: 35064519
Okabe M, Yamamoto K, Miyazaki Y, Motojima M, Ohtsuka M, Pastan I, Yokoo T, Matsusaka T
Am J Physiol Renal Physiol 2021 May 1;320(5):F922-F933. Epub 2021 Mar 15 doi: 10.1152/ajprenal.00602.2020. PMID: 33719575Free PMC Article
Marsh JN, Liu TC, Wilson PC, Swamidass SJ, Gaut JP
JAMA Netw Open 2021 Jan 4;4(1):e2030939. doi: 10.1001/jamanetworkopen.2020.30939. PMID: 33471115Free PMC Article
Cha YJ, Lim BJ, Kim BS, Kim Y, Yoo TH, Han SH, Kang SW, Choi KH, Jeong HJ
Yonsei Med J 2016 Jan;57(1):209-16. doi: 10.3349/ymj.2016.57.1.209. PMID: 26632403Free PMC Article
Boonpucknavig V, Soontornniyomkij V
Semin Nephrol 2003 Jan;23(1):88-106. doi: 10.1053/snep.2003.50008. PMID: 12563604

Prognosis

Tan LW, Wan JL, Zhu CH, Xu H, Xia ZK, Chen LZ, Wu XC, Wang F, Liu XR, Zhao CG, Li XZ, Mao JH, Wang XW, Huang WY, Li YH, Zhang JJ, Feng SP, Yang J, Liu JJ, Gao CL, Rong LP, Shuai LJ, Xu K, Zhang HJ, Li Q, Zhang AH, Wang M
World J Pediatr 2024 May;20(5):506-516. Epub 2023 Oct 19 doi: 10.1007/s12519-023-00753-3. PMID: 37853276Free PMC Article
Miller PP, Caza T, Larsen CP, Charu V
Nephrol Dial Transplant 2023 Feb 13;38(2):396-404. doi: 10.1093/ndt/gfac058. PMID: 35278072Free PMC Article
Peng W, Tang Y, Tan L, Qin W
Kidney Blood Press Res 2019;44(1):103-112. Epub 2019 Feb 22 doi: 10.1159/000498874. PMID: 30808856
De Vriese AS, Sethi S, Nath KA, Glassock RJ, Fervenza FC
J Am Soc Nephrol 2018 Mar;29(3):759-774. Epub 2018 Jan 10 doi: 10.1681/ASN.2017090958. PMID: 29321142Free PMC Article
Glassock RJ, Rule AD
Nephron 2016;134(1):25-9. Epub 2016 Apr 7 doi: 10.1159/000445450. PMID: 27050529

Clinical prediction guides

Lei Q, Hou X, Liu X, Liang D, Fan Y, Xu F, Liang S, Liang D, Yang J, Xie G, Liu Z, Zeng C
J Transl Med 2024 Apr 29;22(1):397. doi: 10.1186/s12967-024-05221-8. PMID: 38684996Free PMC Article
Tan LW, Wan JL, Zhu CH, Xu H, Xia ZK, Chen LZ, Wu XC, Wang F, Liu XR, Zhao CG, Li XZ, Mao JH, Wang XW, Huang WY, Li YH, Zhang JJ, Feng SP, Yang J, Liu JJ, Gao CL, Rong LP, Shuai LJ, Xu K, Zhang HJ, Li Q, Zhang AH, Wang M
World J Pediatr 2024 May;20(5):506-516. Epub 2023 Oct 19 doi: 10.1007/s12519-023-00753-3. PMID: 37853276Free PMC Article
Wang H, Tang C, Dang Z, Yong A, Liu L, Wang S, Zhao M
Kidney Int 2022 Jul;102(1):196-206. Epub 2022 May 2 doi: 10.1016/j.kint.2022.03.027. PMID: 35513124
Ruan Y, Hong F, Wu J, Lin M, Wang C, Lian F, Cao F, Yang G, Huang L, Huang Q
J Nephrol 2022 May;35(4):1113-1121. Epub 2022 Mar 15 doi: 10.1007/s40620-022-01273-5. PMID: 35290652
Peng W, Tang Y, Tan L, Qin W
Kidney Blood Press Res 2019;44(1):103-112. Epub 2019 Feb 22 doi: 10.1159/000498874. PMID: 30808856

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