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Absence of renal corticomedullary differentiation

MedGen UID:
342352
Concept ID:
C1849765
Finding
Synonym: Loss of corticomedullary differentiation
 
HPO: HP:0005564

Definition

A lack of differentiation between renal cortex and medulla on diagnostic imaging. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsence of renal corticomedullary differentiation

Conditions with this feature

Renal coloboma syndrome
MedGen UID:
339002
Concept ID:
C1852759
Disease or Syndrome
PAX2-related disorder is an autosomal dominant disorder associated with renal and eye abnormalities. The disorder was originally referred to as renal coloboma syndrome and characterized by renal hypodysplasia and abnormalities of the optic nerve; with improved access to molecular testing, a wider range of phenotypes has been recognized in association with pathogenic variants in PAX2. Abnormal renal structure or function is noted in 92% of affected individuals and ophthalmologic abnormalities in 77% of affected individuals. Renal abnormalities can be clinically silent in rare individuals. In most individuals, clinically significant renal insufficiency / renal failure is reported. End-stage renal disease requiring renal transplant is not uncommon. Uric acid nephrolithiasis has been reported. Ophthalmologic abnormalities are typically described as optic nerve coloboma or dysplasia. Iris colobomas have not been reported in any individual with PAX2–related disorder. Ophthalmologic abnormalities may significantly impair vision in some individuals, while others have subtle changes only noted after detailed ophthalmologic examination. Additional clinical findings include high-frequency sensorineural hearing loss, soft skin, and ligamentous laxity. PAX2 pathogenic variants have been identified in multiple sporadic and familial cases of nonsyndromic renal disease including renal hypodysplasia and focal segmental glomerulosclerosis.
Tuberous sclerosis 2
MedGen UID:
348170
Concept ID:
C1860707
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Infantile nephronophthisis
MedGen UID:
355574
Concept ID:
C1865872
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).
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
MedGen UID:
1612119
Concept ID:
C4539968
Disease or Syndrome
CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).
Polycystic kidney disease 4
MedGen UID:
1621793
Concept ID:
C4540575
Disease or Syndrome
Autosomal recessive polycystic kidney disease (ARPKD) belongs to a group of congenital hepatorenal fibrocystic syndromes and is a cause of significant renal and liver-related morbidity and mortality in children. The majority of individuals with ARPKD present in the neonatal period with enlarged echogenic kidneys. Renal disease is characterized by nephromegaly, hypertension, and varying degrees of renal dysfunction. More than 50% of affected individuals with ARPKD progress to end-stage renal disease (ESRD) within the first decade of life; ESRD may require kidney transplantation. Pulmonary hypoplasia resulting from oligohydramnios occurs in a number of affected infants. Approximately 30% of these infants die in the neonatal period or within the first year of life from respiratory insufficiency or superimposed pulmonary infections. With neonatal respiratory support and renal replacement therapies, the long-term survival of these infants has improved to greater than 80%. As advances in renal replacement therapy and kidney transplantation improve long-term survival, it is likely that clinical hepatobiliary disease will become a major feature of the natural history of ARPKD. In addition, a subset of individuals with this disorder are identified with hepatosplenomegaly; the renal disease is often mild and may be discovered incidentally during imaging studies of the abdomen. Approximately 50% of infants will have clinical evidence of liver involvement at diagnosis although histologic hepatic fibrosis is invariably present at birth. This can lead to progressive portal hypertension with resulting esophageal or gastric varices, enlarged hemorrhoids, splenomegaly, hypersplenism, protein-losing enteropathy, and gastrointestinal bleeding. Other hepatic findings include nonobstructed dilatation of the intrahepatic bile ducts (Caroli syndrome) and dilatation of the common bile duct, which may lead to recurrent or persistent bacterial ascending cholangitis due to dilated bile ducts and stagnant bile flow. An increasing number of affected individuals surviving the neonatal period will eventually require portosystemic shunting or liver transplantation for complications of portal hypertension or cholangitis. The classic neonatal presentation of ARPKD notwithstanding, there is significant variability in age and presenting clinical symptoms related to the relative degree of renal and biliary abnormalities.
Tessadori-van Haaften neurodevelopmental syndrome 1
MedGen UID:
1810348
Concept ID:
C5676922
Disease or Syndrome
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome-1 (TEBIVANED1) is characterized by poor overall growth with short stature, microcephaly, hypotonia, profound global developmental delay often with poor or absent speech, and characteristic dysmorphic facial features, including hypertelorism and abnormal nose. Other variable neurologic and systemic features may also occur (Tessadori et al., 2017). Genetic Heterogeneity of Tessadori-van Haaften Neurodevelopmental Syndrome See also TEBIVANED2 (619759), caused by mutation in the H4C11 gene (602826); TEBIVANED3 (619950), caused by mutation in the H4C5 gene (602830); and TEBIVANED4 (619951), caused by mutation in the H4C9 gene (602833).

Recent clinical studies

Etiology

Han Z, Zhu Y, Xu J, Wen D, Xia Y, Zheng M, Yan T, Wei M
Dis Markers 2022;2022:9108129. Epub 2022 May 28 doi: 10.1155/2022/9108129. PMID: 35669501Free PMC Article
Bedoya MA, Berman JI, Delgado J, Khrichenko D, Barrera CA, Carson RH, Darge K
Pediatr Radiol 2019 Jul;49(8):1032-1041. Epub 2019 Apr 19 doi: 10.1007/s00247-019-04395-4. PMID: 31001665
Tanaka H, Fujii Y, Tanaka H, Ishioka J, Matsuoka Y, Saito K, Uehara S, Numao N, Yuasa T, Yamamoto S, Masuda H, Yonese J, Kihara K
Int J Urol 2017 Jul;24(7):511-517. Epub 2017 Jun 10 doi: 10.1111/iju.13354. PMID: 28600877
Bilgutay AN, Roth DR, Gonzales ET Jr, Janzen N, Zhang W, Koh CJ, Gargollo P, Seth A
J Pediatr Urol 2016 Jun;12(3):179.e1-7. Epub 2015 Nov 26 doi: 10.1016/j.jpurol.2015.10.009. PMID: 26705688Free PMC Article
Brun M, Maugey-Laulom B, Eurin D, Didier F, Avni EF
Ultrasound Obstet Gynecol 2004 Jul;24(1):55-61. doi: 10.1002/uog.1098. PMID: 15229917

Diagnosis

Han Z, Zhu Y, Xu J, Wen D, Xia Y, Zheng M, Yan T, Wei M
Dis Markers 2022;2022:9108129. Epub 2022 May 28 doi: 10.1155/2022/9108129. PMID: 35669501Free PMC Article
Bedoya MA, Berman JI, Delgado J, Khrichenko D, Barrera CA, Carson RH, Darge K
Pediatr Radiol 2019 Jul;49(8):1032-1041. Epub 2019 Apr 19 doi: 10.1007/s00247-019-04395-4. PMID: 31001665
Sheir KZ, El-Azab M, Mosbah A, El-Baz M, Shaaban AA
J Urol 2005 Aug;174(2):451-5; discussion 455. doi: 10.1097/01.ju.0000165341.08396.a9. PMID: 16006863
Kim JK, Kim TK, Ahn HJ, Kim CS, Kim KR, Cho KS
AJR Am J Roentgenol 2002 Jun;178(6):1499-506. doi: 10.2214/ajr.178.6.1781499. PMID: 12034628
Hildebrandt F, Waldherr R, Kutt R, Brandis M
Clin Investig 1992 Sep;70(9):802-8. doi: 10.1007/BF00180751. PMID: 1450635

Therapy

te Strake L, Schultze Kool LJ, Paul LC, Tegzess AM, Weening JJ, Hermans J, Doornbos J, Bluemm RG, Bloem JL
Clin Radiol 1988 May;39(3):220-8. PMID: 3293883

Prognosis

Han Z, Zhu Y, Xu J, Wen D, Xia Y, Zheng M, Yan T, Wei M
Dis Markers 2022;2022:9108129. Epub 2022 May 28 doi: 10.1155/2022/9108129. PMID: 35669501Free PMC Article
Tanaka H, Fujii Y, Tanaka H, Ishioka J, Matsuoka Y, Saito K, Uehara S, Numao N, Yuasa T, Yamamoto S, Masuda H, Yonese J, Kihara K
Int J Urol 2017 Jul;24(7):511-517. Epub 2017 Jun 10 doi: 10.1111/iju.13354. PMID: 28600877
Bilgutay AN, Roth DR, Gonzales ET Jr, Janzen N, Zhang W, Koh CJ, Gargollo P, Seth A
J Pediatr Urol 2016 Jun;12(3):179.e1-7. Epub 2015 Nov 26 doi: 10.1016/j.jpurol.2015.10.009. PMID: 26705688Free PMC Article
Brun M, Maugey-Laulom B, Eurin D, Didier F, Avni EF
Ultrasound Obstet Gynecol 2004 Jul;24(1):55-61. doi: 10.1002/uog.1098. PMID: 15229917
Hildebrandt F, Waldherr R, Kutt R, Brandis M
Clin Investig 1992 Sep;70(9):802-8. doi: 10.1007/BF00180751. PMID: 1450635

Clinical prediction guides

Han Z, Zhu Y, Xu J, Wen D, Xia Y, Zheng M, Yan T, Wei M
Dis Markers 2022;2022:9108129. Epub 2022 May 28 doi: 10.1155/2022/9108129. PMID: 35669501Free PMC Article
Tanaka H, Fujii Y, Tanaka H, Ishioka J, Matsuoka Y, Saito K, Uehara S, Numao N, Yuasa T, Yamamoto S, Masuda H, Yonese J, Kihara K
Int J Urol 2017 Jul;24(7):511-517. Epub 2017 Jun 10 doi: 10.1111/iju.13354. PMID: 28600877
Bilgutay AN, Roth DR, Gonzales ET Jr, Janzen N, Zhang W, Koh CJ, Gargollo P, Seth A
J Pediatr Urol 2016 Jun;12(3):179.e1-7. Epub 2015 Nov 26 doi: 10.1016/j.jpurol.2015.10.009. PMID: 26705688Free PMC Article
Brun M, Maugey-Laulom B, Eurin D, Didier F, Avni EF
Ultrasound Obstet Gynecol 2004 Jul;24(1):55-61. doi: 10.1002/uog.1098. PMID: 15229917
te Strake L, Schultze Kool LJ, Paul LC, Tegzess AM, Weening JJ, Hermans J, Doornbos J, Bluemm RG, Bloem JL
Clin Radiol 1988 May;39(3):220-8. PMID: 3293883

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