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Nephropathic cystinosis(CTNS)

MedGen UID:
419735
Concept ID:
C2931187
Disease or Syndrome
Synonyms: Abderhalden Lignac Kaufmann disease; Abderhalden-Kaufmann-Lignac syndrome; CTNS; Cystinosin, defect of; Lysosomal cystine transport protein, defect of
SNOMED CT: Nephropathic cystinosis (62332007)
 
Gene (location): CTNS (17p13.2)
 
Monarch Initiative: MONDO:0100151
OMIM®: 219800

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

Additional description

From OMIM
Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.  http://www.omim.org/entry/219800

Clinical features

From HPO
Glycosuria
MedGen UID:
42267
Concept ID:
C0017979
Finding
An increased concentration of glucose in the urine.
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Disease or Syndrome
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Male infertility
MedGen UID:
5796
Concept ID:
C0021364
Disease or Syndrome
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
Polyuria
MedGen UID:
19404
Concept ID:
C0032617
Sign or Symptom
An increased rate of urine production.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Aminoaciduria
MedGen UID:
116067
Concept ID:
C0238621
Disease or Syndrome
An increased concentration of an amino acid in the urine.
Microscopic hematuria
MedGen UID:
65997
Concept ID:
C0239937
Finding
Microscopic hematuria detected by dipstick or microscopic examination of the urine.
Hyperphosphaturia
MedGen UID:
78638
Concept ID:
C0268079
Disease or Syndrome
An increased excretion of phosphates in the urine.
Renal Fanconi syndrome
MedGen UID:
137960
Concept ID:
C0341703
Disease or Syndrome
An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.
Nephrolithiasis
MedGen UID:
98227
Concept ID:
C0392525
Disease or Syndrome
The presence of calculi (stones) in the kidneys.
Medullary nephrocalcinosis
MedGen UID:
588418
Concept ID:
C0403477
Disease or Syndrome
The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Low-molecular-weight proteinuria
MedGen UID:
333360
Concept ID:
C1839606
Finding
Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).
Generalized aminoaciduria
MedGen UID:
339863
Concept ID:
C1847868
Finding
An increased concentration of all types of amino acid 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.
Genu valgum
MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Weight loss
MedGen UID:
853198
Concept ID:
C1262477
Finding
Reduction of total body weight.
Failure to thrive in infancy
MedGen UID:
358083
Concept ID:
C1867873
Finding
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Exocrine pancreatic insufficiency
MedGen UID:
75647
Concept ID:
C0267963
Disease or Syndrome
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Polydipsia
MedGen UID:
43214
Concept ID:
C0085602
Sign or Symptom
Excessive thirst manifested by excessive fluid intake.
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.
Cerebral atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Progressive neurologic deterioration
MedGen UID:
381506
Concept ID:
C1854838
Finding
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Myopathy
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
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.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Cerebral calcification
MedGen UID:
124360
Concept ID:
C0270685
Finding
The presence of calcium deposition within the cerebrum.
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Skeletal muscle atrophy
MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Hypophosphatemic rickets
MedGen UID:
309957
Concept ID:
C1704375
Disease or Syndrome
Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.
Metaphyseal widening
MedGen UID:
341364
Concept ID:
C1849039
Finding
Abnormal widening of the metaphyseal regions of long bones.
Oral motor hypotonia
MedGen UID:
868200
Concept ID:
C4022592
Finding
Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior.
Rachitic rosary
MedGen UID:
1642285
Concept ID:
C4551565
Disease or Syndrome
A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Dehydration
MedGen UID:
8273
Concept ID:
C0011175
Disease or Syndrome
A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
An abnormally decreased potassium concentration in the blood.
Hyponatremia
MedGen UID:
6984
Concept ID:
C0020625
Finding
An abnormally decreased sodium concentration in the blood.
Hypophosphatemia
MedGen UID:
39327
Concept ID:
C0085682
Disease or Syndrome
An abnormally decreased phosphate concentration in the blood.
Hypomagnesemia
MedGen UID:
57481
Concept ID:
C0151723
Disease or Syndrome
An abnormally decreased magnesium concentration in the blood.
Metabolic acidosis
MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
Decreased circulating carnitine concentration
MedGen UID:
222973
Concept ID:
C1142132
Finding
Concentration of carnitine in the blood circulation below the lower limit of normal.
Episodic metabolic acidosis
MedGen UID:
349179
Concept ID:
C1859516
Finding
Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.
Reduced blood urea nitrogen
MedGen UID:
1670959
Concept ID:
C4732780
Finding
An abnormally low concentration of urea nitrogen in the blood.
Hypohidrosis
MedGen UID:
43796
Concept ID:
C0020620
Disease or Syndrome
Abnormally diminished capacity to sweat.
Hypopigmentation of the skin
MedGen UID:
102477
Concept ID:
C0162835
Disease or Syndrome
A reduction of skin color related to a decrease in melanin production and deposition.
Hypopigmentation of hair
MedGen UID:
480031
Concept ID:
C3278401
Finding
Delayed puberty
MedGen UID:
46203
Concept ID:
C0034012
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Male hypogonadism
MedGen UID:
57480
Concept ID:
C0151721
Disease or Syndrome
Familial male hypogonadism is a highly heterogeneous category from which some disorders such as Reifenstein syndrome (312300), Kallmann syndrome (see 308700), isolated gonadotropin deficiency, and some other entities can be separated. The presence of an autosomal recessive form is suggested by the occurrence of parental consanguinity (Nowakowski and Lenz, 1961).
Primary hypothyroidism
MedGen UID:
1389835
Concept ID:
C4316995
Disease or Syndrome
A type of hypothyroidism that results from a defect in the thyroid gland.
Retinopathy
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.
Recurrent corneal erosions
MedGen UID:
56353
Concept ID:
C0155119
Disease or Syndrome
The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Blindness
MedGen UID:
99138
Concept ID:
C0456909
Disease or Syndrome
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.
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.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Pigmentary retinopathy
MedGen UID:
1643295
Concept ID:
C4551715
Disease or Syndrome
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.
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.
Elevated leukocyte cystine
MedGen UID:
1709721
Concept ID:
C5397656
Finding
An increased concentration of cystine within white blood cells.

Professional guidelines

PubMed

Hohenfellner K, Elenberg E, Ariceta G, Nesterova G, Soliman NA, Topaloglu R
Cells 2022 Mar 25;11(7) doi: 10.3390/cells11071109. PMID: 35406673Free PMC Article
Haffner D, Leifheit-Nestler M, Grund A, Schnabel D
Pediatr Nephrol 2022 Oct;37(10):2289-2302. Epub 2022 Mar 29 doi: 10.1007/s00467-022-05505-5. PMID: 35352187Free PMC Article
Jamalpoor A, Othman A, Levtchenko EN, Masereeuw R, Janssen MJ
Trends Mol Med 2021 Jul;27(7):673-686. Epub 2021 May 8 doi: 10.1016/j.molmed.2021.04.004. PMID: 33975805

Recent clinical studies

Etiology

Müller S, Kluck R, Jagodzinski C, Brügelmann M, Hohenfellner K, Büscher A, Kemper MJ, Fröde K, Oh J, Billing H, Thumfart J, Weber LT, Acham-Roschitz B, Arbeiter K, Tönshoff B, Hagenberg M, Pavičić L, Haffner D, Zivicnjak M
Pediatr Nephrol 2023 Dec;38(12):3989-3999. Epub 2023 Jul 7 doi: 10.1007/s00467-023-06058-x. PMID: 37415042Free PMC Article
Veys K, Zadora W, Hohenfellner K, Bockenhauer D, Janssen MCH, Niaudet P, Servais A, Topaloglu R, Besouw M, Novo R, Haffner D, Kanzelmeyer N, Pape L, Wühl E, Harms E, Awan A, Sikora P, Ariceta G, van den Heuvel B, Levtchenko E
J Inherit Metab Dis 2023 Jan;46(1):43-54. Epub 2022 Oct 6 doi: 10.1002/jimd.12562. PMID: 36117148
Florenzano P, Ferreira C, Nesterova G, Roberts MS, Tella SH, de Castro LF, Brown SM, Whitaker A, Pereira RC, Bulas D, Gafni RI, Salusky IB, Gahl WA, Collins MT
J Bone Miner Res 2018 Oct;33(10):1870-1880. Epub 2018 Jul 20 doi: 10.1002/jbmr.3522. PMID: 29905968
Veys KR, Elmonem MA, Arcolino FO, van den Heuvel L, Levtchenko E
Curr Opin Pediatr 2017 Apr;29(2):168-178. doi: 10.1097/MOP.0000000000000462. PMID: 28107209
Mirdehghan M, Ahmadzadeh A, Bana-Behbahani M, Motlagh I, Chomali B
Indian Pediatr 2003 Jan;40(1):21-4. PMID: 12554913

Diagnosis

Kruse F, Keidel LF, Priglinger S, Luft N, Priglinger C
Klin Monbl Augenheilkd 2023 Mar;240(3):260-265. Epub 2023 Jan 25 doi: 10.1055/a-2020-0926. PMID: 36696914
Emma F, Montini G, Pennesi M, Peruzzi L, Verrina E, Goffredo BM, Canalini F, Cassiman D, Rossi S, Levtchenko E
Cells 2022 Jun 4;11(11) doi: 10.3390/cells11111839. PMID: 35681534Free PMC Article
Topaloglu R
Pediatr Nephrol 2021 Jun;36(6):1347-1352. Epub 2020 Jun 20 doi: 10.1007/s00467-020-04638-9. PMID: 32564281
Veys KR, Elmonem MA, Arcolino FO, van den Heuvel L, Levtchenko E
Curr Opin Pediatr 2017 Apr;29(2):168-178. doi: 10.1097/MOP.0000000000000462. PMID: 28107209
Peco-Antić A, Kostić M, Bogdanović R, Spasojević B, Djordjević M, Paripović D, Kovacević D
Srp Arh Celok Lek 2011 Jul-Aug;139(7-8):486-90. PMID: 21980659

Therapy

Hohenfellner K, Elenberg E, Ariceta G, Nesterova G, Soliman NA, Topaloglu R
Cells 2022 Mar 25;11(7) doi: 10.3390/cells11071109. PMID: 35406673Free PMC Article
Haffner D, Leifheit-Nestler M, Grund A, Schnabel D
Pediatr Nephrol 2022 Oct;37(10):2289-2302. Epub 2022 Mar 29 doi: 10.1007/s00467-022-05505-5. PMID: 35352187Free PMC Article
Jamalpoor A, Othman A, Levtchenko EN, Masereeuw R, Janssen MJ
Trends Mol Med 2021 Jul;27(7):673-686. Epub 2021 May 8 doi: 10.1016/j.molmed.2021.04.004. PMID: 33975805
Machuca-Gayet I, Quinaux T, Bertholet-Thomas A, Gaillard S, Claramunt-Taberner D, Acquaviva-Bourdain C, Bacchetta J
Int J Mol Sci 2020 Apr 28;21(9) doi: 10.3390/ijms21093109. PMID: 32354056Free PMC Article
Veys KR, Elmonem MA, Arcolino FO, van den Heuvel L, Levtchenko E
Curr Opin Pediatr 2017 Apr;29(2):168-178. doi: 10.1097/MOP.0000000000000462. PMID: 28107209

Prognosis

Emma F, Montini G, Pennesi M, Peruzzi L, Verrina E, Goffredo BM, Canalini F, Cassiman D, Rossi S, Levtchenko E
Cells 2022 Jun 4;11(11) doi: 10.3390/cells11111839. PMID: 35681534Free PMC Article
Hohenfellner K, Elenberg E, Ariceta G, Nesterova G, Soliman NA, Topaloglu R
Cells 2022 Mar 25;11(7) doi: 10.3390/cells11071109. PMID: 35406673Free PMC Article
Ariceta G, Giordano V, Santos F
Pediatr Nephrol 2019 Apr;34(4):571-578. Epub 2017 Dec 19 doi: 10.1007/s00467-017-3856-4. PMID: 29260317Free PMC Article
Veys KR, Elmonem MA, Arcolino FO, van den Heuvel L, Levtchenko E
Curr Opin Pediatr 2017 Apr;29(2):168-178. doi: 10.1097/MOP.0000000000000462. PMID: 28107209
Peco-Antić A, Kostić M, Bogdanović R, Spasojević B, Djordjević M, Paripović D, Kovacević D
Srp Arh Celok Lek 2011 Jul-Aug;139(7-8):486-90. PMID: 21980659

Clinical prediction guides

Müller S, Kluck R, Jagodzinski C, Brügelmann M, Hohenfellner K, Büscher A, Kemper MJ, Fröde K, Oh J, Billing H, Thumfart J, Weber LT, Acham-Roschitz B, Arbeiter K, Tönshoff B, Hagenberg M, Pavičić L, Haffner D, Zivicnjak M
Pediatr Nephrol 2023 Dec;38(12):3989-3999. Epub 2023 Jul 7 doi: 10.1007/s00467-023-06058-x. PMID: 37415042Free PMC Article
Veys K, Zadora W, Hohenfellner K, Bockenhauer D, Janssen MCH, Niaudet P, Servais A, Topaloglu R, Besouw M, Novo R, Haffner D, Kanzelmeyer N, Pape L, Wühl E, Harms E, Awan A, Sikora P, Ariceta G, van den Heuvel B, Levtchenko E
J Inherit Metab Dis 2023 Jan;46(1):43-54. Epub 2022 Oct 6 doi: 10.1002/jimd.12562. PMID: 36117148
Haffner D, Leifheit-Nestler M, Alioli C, Bacchetta J
Cells 2022 Jan 5;11(1) doi: 10.3390/cells11010170. PMID: 35011732Free 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
Florenzano P, Ferreira C, Nesterova G, Roberts MS, Tella SH, de Castro LF, Brown SM, Whitaker A, Pereira RC, Bulas D, Gafni RI, Salusky IB, Gahl WA, Collins MT
J Bone Miner Res 2018 Oct;33(10):1870-1880. Epub 2018 Jul 20 doi: 10.1002/jbmr.3522. PMID: 29905968

Recent systematic reviews

Kasimer RN, Langman CB
Pediatr Nephrol 2021 Feb;36(2):223-236. Epub 2020 Feb 3 doi: 10.1007/s00467-020-04487-6. PMID: 32016627
Medic G, van der Weijden M, Karabis A, Hemels M
Curr Med Res Opin 2017 Nov;33(11):2065-2076. Epub 2017 Aug 3 doi: 10.1080/03007995.2017.1354288. PMID: 28692321

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