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Juvenile nephropathic cystinosis

MedGen UID:
75701
Concept ID:
C0268626
Congenital Abnormality; Disease or Syndrome
Synonyms: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE; Intermediate Cystinosis
SNOMED CT: Juvenile nephropathic cystinosis (22830006); Adolescent cystinosis (22830006); Intermediate cystinosis (22830006); Late-onset cystinosis (22830006); Cystinosis, type II (22830006); Juvenile cystinosis (22830006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): CTNS (17p13.2)
 
Monarch Initiative: MONDO:0009066
OMIM®: 219900
Orphanet: ORPHA411634

Disease characteristics

Excerpted from the GeneReview: Cystinosis
Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation. [from GeneReviews]
Authors:
Galina Nesterova  |  William A Gahl   view full author information

Clinical features

From HPO
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Stage 5 chronic kidney disease
MedGen UID:
384526
Concept ID:
C2316810
Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Growth abnormality
MedGen UID:
808205
Concept ID:
C0262361
Finding
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Rickets
MedGen UID:
48470
Concept ID:
C0035579
Disease or Syndrome
Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.
Retinal disorder
MedGen UID:
11209
Concept ID:
C0035309
Disease or Syndrome
Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
Corneal crystals
MedGen UID:
853135
Concept ID:
C1096610
Pathologic Function
Retinal pigment epithelial mottling
MedGen UID:
347513
Concept ID:
C1857644
Finding
Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.
Elevated intracellular cystine
MedGen UID:
871150
Concept ID:
C4025623
Finding
An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Alcántara-Ortigoza MA, Belmont-Martínez L, Vela-Amieva M, González-Del Angel A
Genet Test 2008 Sep;12(3):409-14. doi: 10.1089/gte.2008.0014. PMID: 18752449
Prescrire Int 1999 Jun;8(41):67-70. PMID: 10558441
Henning P, Tomlinson L, Rigden SP, Haycock GB, Chantler C
Arch Dis Child 1988 Jan;63(1):35-40. doi: 10.1136/adc.63.1.35. PMID: 3126713Free PMC Article

Recent clinical studies

Etiology

Rohayem J, Haffner D, Cremers JF, Huss S, Wistuba J, Weitzel D, Kliesch S, Hohenfellner K
Hum Reprod 2021 Apr 20;36(5):1191-1204. doi: 10.1093/humrep/deab030. PMID: 33822926Free PMC Article

Diagnosis

Ogata A, Deki S, Uchimura T, Inaba A, Otani M, Ito S
Pediatr Nephrol 2024 Feb;39(2):609-612. Epub 2023 Aug 12 doi: 10.1007/s00467-023-06103-9. PMID: 37572116
Bondue T, Kouraich A, Berlingerio SP, Veys K, Marie S, Alsaad KO, Al-Sabban E, Levtchenko E, van den Heuvel L
Int J Mol Sci 2023 Jan 9;24(2) doi: 10.3390/ijms24021253. PMID: 36674769Free PMC Article
Atmis B, K Bayazit A, Cevizli D, Kor D, Fidan HB, Bisgin A, Kilavuz S, Unal I, Erdogan KE, Melek E, Gonlusen G, Anarat A, Onenli Mungan N
J Nephrol 2022 Apr;35(3):831-840. Epub 2021 Jun 7 doi: 10.1007/s40620-021-01078-y. PMID: 34097292
Rohayem J, Haffner D, Cremers JF, Huss S, Wistuba J, Weitzel D, Kliesch S, Hohenfellner K
Hum Reprod 2021 Apr 20;36(5):1191-1204. doi: 10.1093/humrep/deab030. PMID: 33822926Free PMC Article
Schiefer J, Zenker M, Gröne HJ, Chatzikyrkou C, Mertens PR, Liakopoulos V
Kidney Int 2018 Nov;94(5):1027. doi: 10.1016/j.kint.2018.06.001. PMID: 30348293

Therapy

Ogata A, Deki S, Uchimura T, Inaba A, Otani M, Ito S
Pediatr Nephrol 2024 Feb;39(2):609-612. Epub 2023 Aug 12 doi: 10.1007/s00467-023-06103-9. PMID: 37572116
DiDomenico P, Berry G, Bass D, Fridge J, Sarwal M
J Inherit Metab Dis 2004;27(5):693-9. doi: 10.1023/b:boli.0000043028.97292.70. PMID: 15669688

Prognosis

Ogata A, Deki S, Uchimura T, Inaba A, Otani M, Ito S
Pediatr Nephrol 2024 Feb;39(2):609-612. Epub 2023 Aug 12 doi: 10.1007/s00467-023-06103-9. PMID: 37572116
Atmis B, K Bayazit A, Cevizli D, Kor D, Fidan HB, Bisgin A, Kilavuz S, Unal I, Erdogan KE, Melek E, Gonlusen G, Anarat A, Onenli Mungan N
J Nephrol 2022 Apr;35(3):831-840. Epub 2021 Jun 7 doi: 10.1007/s40620-021-01078-y. PMID: 34097292
DiDomenico P, Berry G, Bass D, Fridge J, Sarwal M
J Inherit Metab Dis 2004;27(5):693-9. doi: 10.1023/b:boli.0000043028.97292.70. PMID: 15669688

Clinical prediction guides

Bondue T, Kouraich A, Berlingerio SP, Veys K, Marie S, Alsaad KO, Al-Sabban E, Levtchenko E, van den Heuvel L
Int J Mol Sci 2023 Jan 9;24(2) doi: 10.3390/ijms24021253. PMID: 36674769Free PMC Article
Atmis B, K Bayazit A, Cevizli D, Kor D, Fidan HB, Bisgin A, Kilavuz S, Unal I, Erdogan KE, Melek E, Gonlusen G, Anarat A, Onenli Mungan N
J Nephrol 2022 Apr;35(3):831-840. Epub 2021 Jun 7 doi: 10.1007/s40620-021-01078-y. PMID: 34097292
Rohayem J, Haffner D, Cremers JF, Huss S, Wistuba J, Weitzel D, Kliesch S, Hohenfellner K
Hum Reprod 2021 Apr 20;36(5):1191-1204. doi: 10.1093/humrep/deab030. PMID: 33822926Free PMC Article

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