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Autosomal Dominant Tubulointerstitial Kidney Disease, MUC1-Related

Synonyms: ADTKD-MUC1, MCKD1, Medullary Cystic Kidney Disease Type 1

, MD, MS and , PhD.

Author Information

Initial Posting: ; Last Update: June 30, 2016.

Summary

Clinical characteristics.

Autosomal dominant tubulointerstitial kidney disease, MUC1-related (ADTKD-MUC1) was previously known as medullary cystic kidney disease type 1. It is characterized by slowly progressive tubulointerstitial disease that leads to end-stage renal disease (ESRD) and the need for dialysis or kidney transplantation. ESRD typically occurs in adulthood but is extremely variable, occurring at any age between 20 and 70 years. There are no other systemic manifestations.

Diagnosis/testing.

Diagnosis of ADTKD-MUC1 is suspected in individuals with an elevated serum creatinine, bland urinary sediment (i.e., little blood or protein), and a family history of kidney disease inherited in an autosomal dominant manner. Renal ultrasound examination may reveal normal or small kidneys. Renal biopsy findings are nonspecific (and, hence, not diagnostic). Identification of a heterozygous MUC1 pathogenic variant on molecular genetic testing confirms the diagnosis.

Management.

Treatment of manifestations: Treatment follows standard guidelines for chronic kidney disease (CKD) and its sequelae, which can include hypertension, anemia, and gout. Affected individuals are encouraged to prepare for kidney transplantation, the definitive treatment of ADTKD-MUC1, by staying in optimal health (e.g., by exercising, avoiding obesity and tobacco usage, and maintaining strict control of hypertension, dyslipidemia, and other cardiovascular risk factors). Transplantation is curative, and the outcome from kidney transplantation in this group of patients is excellent.

Surveillance: Measurement of hemoglobin, serum concentrations of uric acid and creatinine and blood pressure annually prior to entering CKD Stage 3. Thereafter, follow up is determined by the treating nephrologist.

Agents/circumstances to avoid: Drugs or agents known to be nephrotoxic such as nonsteroidal anti-inflammatory drugs, especially when dehydrated.

Evaluation of relatives at risk: If the MUC1 pathogenic variant has been identified in an affected family member, predictive molecular genetic testing of at-risk relatives allows early diagnosis and treatment of renal disease and its sequelae. Additionally, all related potential kidney donors should be tested for the family-specific MUC1 pathogenic variant, as only those without the pathogenic variant should be assessed as eligible kidney donors.

Genetic counseling.

ADTKD-MUC1 is inherited in an autosomal dominant manner. Each child of an affected individual has a 50% chance of inheriting the pathogenic variant. Once the pathogenic variant has been identified in an affected family member, molecular genetic testing can clarify the genetic status of at-risk family members. While prenatal testing is theoretically possible, the complexities of molecular genetic testing make it difficult.

Diagnosis

Suggestive Findings

Autosomal dominant tubulointerstitial kidney disease, MUC1-related (ADTKD-MUC1) should be suspected in individuals with the following findings.

Clinical Signs

Tubulointerstitial kidney disease. Urinalysis of affected individuals reveals few or no red cells or white cells and less than 500 mg of urinary protein.

Slowly progressive chronic kidney disease. Affected individuals usually develop asymptomatic elevations in their serum creatinine concentration or reduced estimated glomerular filtration rate (eGFR), which may initially appear in the late teens or early twenties. ESRD typically occurs in adulthood but is extremely variable, occurring at any age between 20 and 70 years.

Autosomal dominant inheritance. The presence of chronic kidney disease (elevated serum creatinine) or end-stage renal disease inherited in an autosomal dominant manner is another important clue to this disorder.

No other systemic findings are present.

Testing

The majority of patients with ADTKD-MUC1 have the following lab test abnormalities.

Serum creatinine (eGFR). As individuals with ADTKD-MUC1 age, kidney function worsens, and the serum creatinine rises.

  • The serum creatinine is an indirect measure of glomerular filtration rate, and there are formulas that calculate the eGFR from the serum creatinine.
    • On most laboratory reports, the eGFR is included. However, calculators are available online for this purpose (e.g., MDRD GFR Equation).
  • A reduced eGFR (<90 mL/min/1.73 m2) is a sensitive indicator of ADTKD-MUC1 in adults, but it is not specific, as many individuals in the general population have mildly decreased eGFR measurements.
  • The age at ESRD requiring dialysis or transplant may vary from the early 20s [Kimmel et al 2005] to the 70s [Stavrou et al 2002, Kirby et al 2013].

Urinalysis. Hematuria is not present, and excretion of protein is <500 mg/24 hours until kidney failure is advanced.

Kidney imaging and histology

  • Renal ultrasound examination is usually normal or shows small kidneys. As with other patients with chronic kidney disease, occasional cysts may be seen.
  • Kidney biopsy reveals focal tubular atrophy, secondary glomerular scarring, and interstitial fibrosis. Biopsy findings are nonspecific and usually do NOT lead to the diagnosis of ADTKD-MUC1.

Establishing the Diagnosis

The diagnosis of ADTKD-MUC1 is established in a proband with the above suggestive findings and identification of a heterozygous MUC1 pathogenic variant on molecular genetic testing (see Table 1).

The only molecular genetic testing approach used to date is targeted analysis for the duplicated C or inserted A nucleotide within the coding variable-number tandem repeat (VNTR) in MUC1 [Kirby et al 2013]

Note: The pathogenic variant cannot be detected with routine single-gene sequencing or deletion/duplication testing techniques. Likewise, existing multi-gene panels and genomic testing (i.e., exome and genome sequencing) will not identify the causative pathogenic variants in MUC1.

Currently, genetic testing for ADTKD-MUC1 is available on a limited basis; see Author Notes.

To date, no individual with a de novo MUC1 pathogenic variant has been identified [Author, personal observation]: individuals with no family history of the disorder are unlikely to have ADTKD-MUC1.

Table 1.

Molecular Genetic Testing Used in Autosomal Dominant Tubulointerstitial Kidney Disease, MUC1-Related

Gene 1Test MethodProportion of Probands with a Pathogenic Variant 2 Detectable by This Method
MUC1Targeted analysis for pathogenic variants 321/24 families tested 4
1.
2.

See Molecular Genetics for information on allelic variants detected in this gene.

3.

Specific genotyping assays are needed to detect the C (cytosine) duplication in the VNTR region; the pathogenic variant is not identifiable by routine sequence analysis (Sanger or massively parallel sequence analysis) due to the repetitive nature of the surrounding sequence [Kirby et al 2013].

4.

21 of 24 families with autosomal dominant interstitial kidney disease (without a pathogenic variant in either UMOD or REN) [A Bleyer, personal communication]

Clinical Characteristics

Clinical Description

Autosomal dominant tubulointerstitial kidney disease, MUC1-related (ADTKD-MUC1) is characterized by slowly progressive tubulointerstitial disease that leads to end-stage renal disease (ESRD).

Onset. ADTKD-MUC1 rarely manifests in childhood. Abnormal serum creatinine concentration or reduced eGFR may initially appear in the late teens or early twenties. As the overlap between a normal serum creatinine value and a mildly abnormal value is considerable, ADTKD-MUC1 may be difficult to diagnose in the early stages.

Progression. With time, kidney function slowly worsens and serum creatinine concentration slowly rises from the normal range to the high normal range, and then to above normal. In adults the eGFR (calculated using the serum creatinine concentration, age, gender, and race) will show a progressive reduction over time.

  • With age, the serum creatinine concentration rises at a rate unique in each affected individual. Two groups of families have been identified; in one family the age of onset of ESRD is before 40 years in all affected family members [Kimmel et al 2005], and in the other group of families the age of onset of ESRD varies between the late 20s to older than 70 years [Stavrou et al 2002, Kiser et al 2004, Kirby et al 2013, Bleyer et al 2014].
  • As kidney function worsens, manifestations of chronic kidney disease (CKD) develop, including high blood pressure, gout, and anemia. Kidney function progressively worsens until dialysis or kidney transplantation is required.

Post-transplantation. ADTKD-MUC1 does not recur in the transplanted kidney.

Genotype-Phenotype Correlations

There are no known genotype-phenotype correlations.

Penetrance

CKD occurs in all affected individuals; however, the age of onset of ESRD ranges from age 20 years to older than 70 years.

Nomenclature

Medullary cystic kidney disease type 1 is the name that has historically been given to this disorder. The name is a misnomer in that cysts in the renal medulla are not a common clinical characteristic, and the presence of medullary cysts is not a good predictor of the presence of ADTKD-MUC1.

According to the nomenclature from 2015 [Eckardt et al 2015], the term "autosomal dominant tubulointerstitial kidney disease" (ADTKD) refers to the following disorders characterized by: (1) autosomal dominant inheritance; (2) slowly progressive chronic tubulointerstitial kidney disease resulting in ESRD in the third through seventh decade of life; (3) urinalysis revealing a bland urinary sediment (i.e., little blood or protein); and (4) renal ultrasound examination that is normal early in the disease course [Bleyer et al 2010]. Subtypes include the following:

Note: (1) The term "nephronophthisis/medullary cystic kidney disease (NPH/MCKD) complex" was used in the past to refer to both autosomal recessive and autosomal dominant forms of hereditary chronic tubulointerstitial disease [Hildebrandt et al 1992]. Nephronophthisis is now used to refer to a group of conditions with autosomal recessive inheritance that present in childhood with chronic kidney failure. These conditions are caused by pathogenic variants in at least 12 different genes, denoted as nephrocystins (NPHP1-NPHP11, NPHP1L) [Wolf & Hildebrandt 2011]. Clinical characteristics include polyuria, anemia, and slowly progressive kidney failure. (2) Medullary sponge kidney (MSK), associated with calcifications of the medulla of the kidney, hypercalciuria, hematuria, and tubular acidification defects [Gambaro et al 2006], is not in any way related to medullary cystic kidney disease. See Nephronopthisis.

Prevalence

ADTKD-MUC1 is estimated to affect about 100 families in the United States and about 1000 families worldwide. This is likely to be an underestimate and will increase with accurate molecular diagnostics.

Differential Diagnosis

Figure 1, a diagnostic algorithm for inherited kidney disease, recommends the following.

Figure 1.

Figure 1.

Testing strategy for inherited kidney disease – 2015 update

Urinalysis. If blood and protein are present, consider evaluation for inherited glomerulonephritis. If the urine sediment is bland (trace or no blood and protein <1 gm/24 h), obtain a family history to determine the likely inheritance pattern. If autosomal recessive (i.e., only sibs are affected), consider autosomal recessive polycystic kidney disease or the group of disorders termed "nephronophthisis."

Renal imaging. Renal imaging should always be performed. Ultrasound examination is typically performed first. If numerous cortical and medullary cysts and enlarged kidneys are present, consider autosomal dominant polycystic kidney disease (ADPKD).

If the number of cysts is fewer than required for a diagnosis of ADPKD, the family history suggests autosomal dominant inheritance, the urine is bland, the kidneys are normal or reduced in size with or without medullary cysts, and renal histology (if performed) has shown interstitial fibrosis, consider screening for pathogenic variants in UMOD, REN, or MUC1.

Management

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with ADTKD-MUC1, the following evaluations are recommended:

  • Measurement of hemoglobin concentration and serum concentration of uric acid and creatinine
  • Measurement of blood pressure
  • Referral to a nephrologist for further evaluation
  • Consultation with a clinical geneticist and/or genetic counselor

Treatment of Manifestations

Care by a nephrologist is recommended.

Treatment follows standard guidelines for chronic kidney disease – based on the level of the serum creatinine and estimated glomerular filtration rate (eGFR) – and its sequelae, which can include hypertension, anemia, and gout. Affected individuals are encouraged to prepare for kidney transplantation, the definitive treatment of ADTKD-MUC1, by staying in optimal health (e.g., by exercising, avoiding obesity and tobacco usage, and maintaining strict control of hypertension, dyslipidemia, and other cardiovascular risk factors).

Transplantation is curative, and the outcome from kidney transplantation in this group of patients is excellent.

Surveillance

Annually, starting at the time of diagnosis and continuing until chronic kidney disease (CKD) Stage 3:

  • Hemoglobin concentration
  • Serum concentrations of uric acid and creatinine
  • Blood pressure

After CKD Stage 3, follow up as determined by the treating nephrologist is appropriate.

Agents/Circumstances to Avoid

Avoid use of nonsteroidal anti-inflammatory drugs (NSAIDs), especially when dehydrated, as NSAIDs can further impair kidney function in individuals with CKD. Avoid all nephrotoxic drugs or use with caution depending on the clinical indication.

Evaluation of Relatives at Risk

For the purpose of early diagnosis and treatment. If the pathogenic variant has been identified in an affected family member, molecular genetic testing can be used to clarify the genetic status of at-risk relatives (parents, sibs, and offspring). Relatives found to have a pathogenic variant can be monitored with serum creatinine measurements to allow early diagnosis and treatment (see Related Genetic Counseling Issues for discussion of testing of children.)

For the purpose of kidney donation. If an MUC1 pathogenic variant is known to be present in an affected family member, any relative who is a potential kidney donor should undergo molecular genetic testing to clarify his/her genetic status so that only those without the pathogenic variant are evaluated further. Several individuals with what appeared to be clinically normal kidney function have donated kidneys and later been found to have ADTKD, MUC1.Thus, it is important to test even those family members with normal kidney function to be certain that they do not have a pathogenic variant.

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Search ClinicalTrials.gov for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

Autosomal dominant tubulointerstitial kidney disease, MUC1-related (ADTKD-MUC1) is inherited in an autosomal dominant manner.

Risk to Family Members

Parents of a proband

  • Most individuals diagnosed with ADTKD-MUC1 have an affected parent.
  • A proband with ADTKD-MUC1 may have the disorder as the result of a de novo pathogenic variant. Because simplex cases (i.e., a single occurrence in a family) have not been evaluated sufficiently to determine if the pathogenic variant was de novo, the proportion of ADTKD-MUC1 caused by a de novo pathogenic variant is unknown.
  • If the pathogenic variant found in the proband cannot be detected in leukocyte DNA of either parent, possible explanations include a de novo pathogenic variant in the proband or germline mosaicism in a parent (although no instances of germline mosaicism have been reported, it remains a possibility).
  • Recommendations for the evaluation of parents of a proband with an apparent de novo pathogenic variant include molecular genetic testing of the parents. Evaluation of parents may determine that one is affected but has escaped previous diagnosis because of a milder phenotype. Therefore, an apparently negative family history can be confirmed only after appropriate evaluations have been performed.
  • Although most individuals diagnosed with ADTKD-MUC1 have an affected parent, the family history may appear to be negative because of early death of the parent before the onset of symptoms or late onset of the disease in the affected parent.

Sibs of a proband

  • The risk to the sibs of the proband depends on the genetic status of the proband's parents: if a parent of the proband is affected or has an MUC1 pathogenic variant, the risk to the sibs is 50%.
  • When the parents are clinically unaffected, the risk to the sibs of a proband appears to be low. However, such individuals are still at increased risk for ADTKD-MUC1 because of the possibility later onset in a parent.
  • If the MUC1 pathogenic variant found in the proband cannot be detected in the leukocyte DNA of either parent, the risk to sibs is low, but greater than that of the general population because of the possibility of parental germline mosaicism.

Offspring of a proband. Each child of an individual with ADTKD-MUC1 has a 50% chance of inheriting the MUC1 pathogenic variant.

Other family members. The risk to other family members depends on the status of the proband's parents: if a parent is affected or has an MUC1 pathogenic variant, his or her family members may be at risk.

Related Genetic Counseling Issues

See Management, Evaluation of Relatives at Risk for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.

Predictive testing in minors (i.e., testing of asymptomatic at-risk individuals younger than age 18 years). ADTKD-MUC1 rarely manifests in childhood and there is no specific ADTKD-MUC1 therapy at this time. However, knowledge of genetic status may encourage early monitoring for better health, development of good health habits in anticipation of need for transplant, and avoidance of potentially nephrotoxic substances.

Differences in perspective may exist among medical professionals and within families regarding the use of predictive testing for ADTKD-MUC1 in minors; discussion of potential risks and benefits is appropriate. In general, predictive testing of minors for adult-onset disorders is not considered appropriate unless such testing has a compelling medical benefit. Concern exists regarding the potential unhealthy adverse effects that such information may have on family dynamics, the risk of discrimination and stigmatization in the future, and the anxiety that such information may cause.

For more information, see the National Society of Genetic Counselors position statement on genetic testing of minors for adult-onset conditions and the American Academy of Pediatrics and American College of Medical Genetics and Genomics policy statement: ethical and policy issues in genetic testing and screening of children.

It is appropriate to consider testing symptomatic individuals regardless of age in a family with an established diagnosis of ADTK-MUC1.

Considerations in families with an apparent de novo pathogenic variant. When neither parent of a proband with an autosomal dominant disorder has the pathogenic variant identified in the proband, the pathogenic variant is likely de novo. However, possible non-medical explanations including alternate paternity or maternity (e.g., with assisted reproduction) and undisclosed adoption could also be explored.

Family planning

  • The optimal time for determination of genetic risk and discussion of the availability of prenatal testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected or at risk.

DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing and Premplantation Genetic Diagnosis

Even if the MUC1 pathogenic variant has been identified in an affected family member, prenatal testing and preimplantation genetic diagnosis for a pregnancy at increased risk for ADTKD-MUC1 are currently unavailable at this time due to the complexity of the genetic testing in this disorder.

Resources

GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

  • MUC1-Related Kidney Disease Registry
    Dr. Anthony Bleyer has established a registry of individuals with MUC1 pathogenic variants. Please contact him (ableyer@wakehealth.edu) if interested in participation. A pamphlet for living with ADTKD-MUC1 is available as well.
    Email: ableyer@wakehealth.edu

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A.

Autosomal Dominant Tubulointerstitial Kidney Disease, MUC1-Related: Genes and Databases

GeneChromosome LocusProteinHGMDClinVar
MUC11q22Mucin-1MUC1MUC1

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

Table B.

OMIM Entries for Autosomal Dominant Tubulointerstitial Kidney Disease, MUC1-Related (View All in OMIM)

158340MUCIN 1, TRANSMEMBRANE; MUC1
174000MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1

Gene structure. MUC1 consists of seven exons. Alternative splicing events yield at least ten transcript variants of MUC1 [Reference sequence NM_002456.5]. MUC1 contains a 60-mer variable-number tandem repeat (VNTR) within the coding region. The normal VNTR copy number ranges from 20 to 125. For a detailed summary of gene and protein information, see Table A, Gene.

Pathogenic variants. The only molecular mechanism of disease identified to date is a heterozygous duplication of one cytosine in a heptanucleotide cytosine tract within one copy of the VNTR. The specific VNTR involved varies by family but is consistent within a family. Repeat expansion is not a mechanism of disease.

Several other pathogenic variants (including an A insertion instead of a C insertion) that result in the creation of a frameshift causing the transcription of the same neopeptide as that formed with the C insertion have been identified [S Kmoch, personal communication].

Normal gene product. Mucin-1 is a membrane-anchored mucoprotein found in breast, respiratory tract, sebaceous gland, salivary gland, and renal tubules. Mucin-1 provides (among other functions) a protective barrier that prevents pathogens from accessing the cell surface. Of note, with the exception of the kidney, no evidence of clinical abnormality is found in persons with an MUC1 pathogenic variant.

Abnormal gene product. The abnormal gene product is a neopeptide that has the same signal peptide as wild type mucin-1. The neopeptide is deposited in the cytoplasm of the renal tubular cells and is thought to accelerate apoptosis in the renal tubular cells, leading to nephron dropout resulting in slowly progressive chronic kidney disease [Kirby et al 2013].

References

Literature Cited

  • Bleyer AJ, Hart PS, Kmoch S. Hereditary interstitial kidney disease. Semin Nephrol. 2010;30:366–73. [PMC free article: PMC4264385] [PubMed: 20807609]
  • Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati CJ, Orr-Urtreger A, Ben-Shachar S, Waugh DA, McGinn S, Bleyer AJ Jr, Hodanova K, Vylet’al P, Zivna M, Hart TC, Hart PS. Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. Clin J Am Soc Nephrol. 2014;9:527–35. [PMC free article: PMC3944763] [PubMed: 24509297]
  • Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. Kidney Int. 2015;88:676–83. [PubMed: 25738250]
  • Gambaro G, Fabris A, Puliatta D, Lupo A. Lithiasis in cystic kidney disease and malformations of the urinary tract. Urol Res. 2006;34:102–7. [PubMed: 16416113]
  • Hildebrandt F, Waldherr R, Kutt R, Brandis M. The nephronophthisis complex: clinical and genetic aspects. Clin Investig. 1992;70:802–8. [PubMed: 1450635]
  • Kimmel RJ, Kovacs I, Vrabel C, Wood B, Schalling M, Kelsoe JR. Cosegregation of bipolar disorder and autosomal-dominant medullary cystic kidney disease in a large family. Am J Psychiatry. 2005;162:1972–4. [PubMed: 16199849]
  • Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hůlková H, Sovová J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet. 2013;45:299–303. [PMC free article: PMC3901305] [PubMed: 23396133]
  • Kiser RL, Wolf MT, Martin JL, Zalewski I, Attanasio M, Hildebrandt F, Klemmer P. Medullary cystic kidney disease type 1 in a large Native-American kindred. Am J Kidney Dis. 2004;44:611–7. [PubMed: 15384011]
  • Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, Kyriacou K, Hildebrandt F, Christofides T, Pierides A, Deltas CC. Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. Kidney Int. 2002;62:1385–94. [PubMed: 12234310]
  • Wolf MT, Hildebrandt F. Nephronophthisis. Pediatr Nephrol. 2011;26:181–94. [PMC free article: PMC4160028] [PubMed: 20652329]
  • Zivná M, Hůlková H, Matignon M, Hodanová K, Vylet'al P, Kalbácová M, Baresová V, Sikora J, Blazková H, Zivný J, Ivánek R, Stránecký V, Sovová J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gübler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet. 2009;85:204–13. [PMC free article: PMC2725269] [PubMed: 19664745]

Chapter Notes

Author Notes

Dr Stanislav Kmoch (zc.inuc.1fl@hcomks) and Dr Anthony Bleyer (ude.cmbufw@reyelba) are actively involved in clinical research regarding individuals with MUC1 mutations and other forms of inherited kidney disease and would be happy to communicate with individuals who have any questions regarding diagnosis or other considerations.

Related website: www.wfubmc.edu

Molecular genetic testing for medullary cystic kidney disease type 1 is currently not commercially available. Contact Dr Bleyer (ude.htlaehekaw@reyelba) to inquire about testing.

Revision History

  • 30 June 2016 (ha) Comprehensive update posted live
  • 15 August 2013 (me) Review posted live
  • 30 April 2013 (ab) Original submission
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