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Renal cortical cysts

MedGen UID:
370605
Concept ID:
C1969144
Finding
Synonym: Cortical cysts
 
HPO: HP:0000803

Definition

Cysts of the cortex of the kidney. [from HPO]

Conditions with this feature

Beckwith-Wiedemann syndrome
MedGen UID:
2562
Concept ID:
C0004903
Disease or Syndrome
Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly), and ear creases/pits. BWS is considered a clinical spectrum, in which affected individuals may have many of these features or may have only one or two clinical features. Early death may occur from complications of prematurity, hypoglycemia, cardiomyopathy, macroglossia, or tumors. However, the previously reported mortality of 20% is likely an overestimate given better recognition of the disorder along with enhanced treatment options. Macroglossia and macrosomia are generally present at birth but may have postnatal onset. Growth rate slows around age seven to eight years. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues.
Multiple acyl-CoA dehydrogenase deficiency
MedGen UID:
75696
Concept ID:
C0268596
Disease or Syndrome
Multiple acyl-CoA dehydrogenase deficiency (MADD) represents a clinical spectrum in which presentations can be divided into type I (neonatal onset with congenital anomalies), type II (neonatal onset without congenital anomalies), and type III (late onset). Individuals with type I or II MADD typically become symptomatic in the neonatal period with severe metabolic acidosis, which may be accompanied by profound hypoglycemia and hyperammonemia. Many affected individuals die in the newborn period despite metabolic treatment. In those who survive the neonatal period, recurrent metabolic decompensation resembling Reye syndrome and the development of hypertrophic cardiomyopathy can occur. Congenital anomalies may include dysmorphic facial features, large cystic kidneys, hypospadias and chordee in males, and neuronal migration defects (heterotopias) on brain MRI. Individuals with type III MADD, the most common presentation, can present from infancy to adulthood. The most common symptoms are muscle weakness, exercise intolerance, and/or muscle pain, although metabolic decompensation with episodes of rhabdomyolysis can also be seen. Rarely, individuals with late-onset MADD (type III) may develop severe sensory neuropathy in addition to proximal myopathy.
C syndrome
MedGen UID:
167105
Concept ID:
C0796095
Disease or Syndrome
The C syndrome, also known as Opitz trigonocephaly syndrome, is a malformation syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears (summary by Kaname et al., 2007). C syndrome shows phenotypic overlap with Bohring-Opitz syndrome, or C-like syndrome (605039), a disorder with more severe features than C syndrome, caused by heterozygous mutation in the ASXL1 gene (612990) on chromosome 20q11.
MPDU1-congenital disorder of glycosylation
MedGen UID:
322968
Concept ID:
C1836669
Disease or Syndrome
Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a general discussion of CDGs, see CDG Ia (212065) and CDG Ib (602579).
Joubert syndrome 5
MedGen UID:
347545
Concept ID:
C1857780
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Developmental and epileptic encephalopathy, 77
MedGen UID:
1684735
Concept ID:
C5231405
Disease or Syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first months of life. Patients have severe global developmental delay, and may have additional variable features, including dysmorphic or coarse facial features, visual defects, and mild skeletal or renal anomalies. At the cellular level, the disorder is caused by a defect in the synthesis of glycosylphosphatidylinositol (GPI), and thus affects the expression of GPI-anchored proteins at the cell surface (summary by Starr et al., 2019). For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).

Professional guidelines

PubMed

Gimpel C, Avni FE, Bergmann C, Cetiner M, Habbig S, Haffner D, König J, Konrad M, Liebau MC, Pape L, Rellensmann G, Titieni A, von Kaisenberg C, Weber S, Winyard PJD, Schaefer F
JAMA Pediatr 2018 Jan 1;172(1):74-86. doi: 10.1001/jamapediatrics.2017.3938. PMID: 29181500
Bai D, Zhao J, Li L, Gao J, Wang X
Sci China Life Sci 2017 Jul;60(7):763-771. Epub 2017 Jun 14 doi: 10.1007/s11427-017-9091-x. PMID: 28623545
Porcaro AB, Novella G, Ficarra V, Curti P, Antoniolli SZ, Suangwoua HS, Malossini G
Int Urol Nephrol 2001;32(3):295-302. doi: 10.1023/a:1017587312369. PMID: 11583337

Recent clinical studies

Etiology

Kunwar AK, Upadhyay AM, Shrestha SB, Koirala U, Tiwari K, Dangal G
J Nepal Health Res Counc 2019 Apr 28;17(1):94-99. doi: 10.33314/jnhrc.1772. PMID: 31110385
Matsell DG, Yu S, Morrison SJ
Fetal Diagn Ther 2016;39(3):214-21. Epub 2015 Sep 17 doi: 10.1159/000439302. PMID: 26375276
Ozülker T, Ozülker F, Ozbek E, Ozpaçaci T
Nucl Med Commun 2011 Apr;32(4):265-72. doi: 10.1097/MNM.0b013e3283442e3b. PMID: 21301376
Holmes N, Harrison MR, Baskin LS
Pediatrics 2001 Jul;108(1):E7. doi: 10.1542/peds.108.1.e7. PMID: 11433086
Lee KR, Wulfsberg E, Kepes JJ
Radiology 1977 Mar;122(3):649-53. doi: 10.1148/122.3.649. PMID: 841041

Diagnosis

Ruano R, Dunn T, Braun MC, Angelo JR, Safdar A
Pediatr Nephrol 2017 Oct;32(10):1871-1878. Epub 2017 Jul 21 doi: 10.1007/s00467-017-3593-8. PMID: 28730376
Matsell DG, Yu S, Morrison SJ
Fetal Diagn Ther 2016;39(3):214-21. Epub 2015 Sep 17 doi: 10.1159/000439302. PMID: 26375276
Eneman B, Mekahli D, Audrezet MP, Lerut E, Van Damme-Lombaerts R, Van den Heuvel L, Levtchenko E
Pediatrics 2014 Jan;133(1):e252-6. Epub 2013 Dec 30 doi: 10.1542/peds.2013-1524. PMID: 24379226
Holmes N, Harrison MR, Baskin LS
Pediatrics 2001 Jul;108(1):E7. doi: 10.1542/peds.108.1.e7. PMID: 11433086
Mahony BS, Filly RA, Callen PW, Hricak H, Golbus MS, Harrison MR
Radiology 1984 Jul;152(1):143-6. doi: 10.1148/radiology.152.1.6729104. PMID: 6729104

Therapy

Inan N, Corapcioglu F, Akansel G, Yildiz K, Ozdamar AS, Mutlu A
Pediatr Hematol Oncol 2009 Oct-Nov;26(7):496-503. doi: 10.1080/08880010902773263. PMID: 19863205
Wilson GN, Holmes RG, Custer J, Lipkowitz JL, Stover J, Datta N, Hajra A
Am J Med Genet 1986 May;24(1):69-82. doi: 10.1002/ajmg.1320240109. PMID: 3706414

Prognosis

Voskarides K, Papagregoriou G, Hadjipanagi D, Petrou I, Savva I, Elia A, Athanasiou Y, Pastelli A, Kkolou M, Hadjigavriel M, Stavrou C, Pierides A, Deltas C
BMC Nephrol 2018 May 16;19(1):114. doi: 10.1186/s12882-018-0906-5. PMID: 29764427Free PMC Article
Ruano R, Dunn T, Braun MC, Angelo JR, Safdar A
Pediatr Nephrol 2017 Oct;32(10):1871-1878. Epub 2017 Jul 21 doi: 10.1007/s00467-017-3593-8. PMID: 28730376
Matsell DG, Yu S, Morrison SJ
Fetal Diagn Ther 2016;39(3):214-21. Epub 2015 Sep 17 doi: 10.1159/000439302. PMID: 26375276
Holmes N, Harrison MR, Baskin LS
Pediatrics 2001 Jul;108(1):E7. doi: 10.1542/peds.108.1.e7. PMID: 11433086
Mahony BS, Filly RA, Callen PW, Hricak H, Golbus MS, Harrison MR
Radiology 1984 Jul;152(1):143-6. doi: 10.1148/radiology.152.1.6729104. PMID: 6729104

Clinical prediction guides

Kunwar AK, Upadhyay AM, Shrestha SB, Koirala U, Tiwari K, Dangal G
J Nepal Health Res Counc 2019 Apr 28;17(1):94-99. doi: 10.33314/jnhrc.1772. PMID: 31110385
Voskarides K, Papagregoriou G, Hadjipanagi D, Petrou I, Savva I, Elia A, Athanasiou Y, Pastelli A, Kkolou M, Hadjigavriel M, Stavrou C, Pierides A, Deltas C
BMC Nephrol 2018 May 16;19(1):114. doi: 10.1186/s12882-018-0906-5. PMID: 29764427Free PMC Article
Matsell DG, Yu S, Morrison SJ
Fetal Diagn Ther 2016;39(3):214-21. Epub 2015 Sep 17 doi: 10.1159/000439302. PMID: 26375276
Holmes N, Harrison MR, Baskin LS
Pediatrics 2001 Jul;108(1):E7. doi: 10.1542/peds.108.1.e7. PMID: 11433086
Mahony BS, Filly RA, Callen PW, Hricak H, Golbus MS, Harrison MR
Radiology 1984 Jul;152(1):143-6. doi: 10.1148/radiology.152.1.6729104. PMID: 6729104

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