Autosomal dominant tubule-interstitial kidney disease, including medullary cystic disease

2018 ◽  
Author(s):  
John A. Sayer
Keyword(s):  
Kidney Disease ◽  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Molecular Genetic Diagnosis ◽  
End Stage

The term medullary cystic kidney disease (MCKD) describes a group of autosomal dominantly inherited renal disorders. The term MCKD is used interchangeably with other terms, most commonly autosomal dominant interstitial kidney disease, and now may be distinguished using a molecular genetic diagnosis into at least three types. These include MCKD type 1, MCKD type 2 (also known now as uromodulin-associated kidney disease), and REN-associated kidney disease. Each of these types have phenotypic overlap but with a few distinguishing features. MCKD typically leads to end-stage renal failure between 30 and 70 years of age. Extrarenal features may include gout and childhood anaemia.

scholarly journals Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease

2019 ◽  
Vol 4 (12) ◽  
pp. 1751-1759 ◽  
Author(s):  
Intisar Al Alawi ◽  
Issa Al Salmi ◽  
Fatma Al Rahbi ◽  
Mohamed Al Riyami ◽  
Naifain Al Kalbani ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Molecular Genetic Diagnosis

Renal graft outcome in autosomal dominant medullary cystic kidney disease type 1

2013 ◽  
Vol 26 (4) ◽  
pp. 793-798 ◽  
Author(s):  
Andreas P. Soloukides ◽  
Dimitrios-Anestis D. Moutzouris ◽  
Gregory N. Papagregoriou ◽  
Christoforos V. Stavrou ◽  
Constantinos C. Deltas ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Autosomal Dominant ◽  
Disease Type ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Renal Graft ◽  
Graft Outcome ◽  
Medullary Cystic Kidney Disease

scholarly journals Autosomal-dominant medullary cystic kidney disease type 1: Clinical and molecular findings in six large Cypriot families

2002 ◽  
Vol 62 (4) ◽  
pp. 1385-1394 ◽  
Author(s):  
Christoforos Stavrou ◽  
Michael Koptides ◽  
Christos Tombazos ◽  
Evlalia Psara ◽  
Charalambos Patsias ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Autosomal Dominant ◽  
Disease Type ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Medullary Cystic Kidney Disease

Cystic Diseases of the Kidney

2017 ◽  
Author(s):  
Christian Riella ◽  
Peter G Czarnecki ◽  
Theodor I Steinman
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Disease Gene ◽  
Renal Cysts ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
End Stage

The spectrum of cystic kidney diseases encompasses a wide range of genetic syndromes with different identified disease genes, modes of inheritance, extrarenal organ manifestations, and clinical progression. Depending on the given disease gene and type of mutation in a respective cystic kidney disease, the age of onset, pathologic characteristics, and rate of progression to end-stage kidney disease vary considerably. This review covers disease definitions, etiology and genetics, pathophysiology and pathogenesis, diagnosis, differential diagnosis, and treatment of cystic kidney disease. Additionally, simple and complex renal cysts in adults are discussed. Tables list the epidemiology of polycystic kidney disease, gene locus, and encoded protein, unified criteria for ultrasonographic diagnosis of autosomal dominant polycystic kidney disease (APDKD), risk factors for progressive kidney disease in APDKD, differential diagnosis of cystic diseases of the kidney, Halt Progression of Polycystic Kidney Disease trial summary, and other extrarenal manifestations of ADPDK. Key Words: Cystic kidney disease; Autosomal dominant polycystic kidney disease; APDKD; Polycystic kidney disease; PKD; End-stage renal disease; Renal cysts; Progressive kidney disease

scholarly journals Familial Juvenile Hyperuricemic Nephropathy and Autosomal Dominant Medullary Cystic Kidney Disease Type 2: Two Facets of the Same Disease?

2001 ◽  
Vol 12 (11) ◽  
pp. 2348-2357 ◽  
Author(s):  
KARIN DAHAN ◽  
ARNO FUCHSHUBER ◽  
STAVROULA ADAMIS ◽  
MICHÈLE SMAERS ◽  
SABINE KROISS ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Autosomal Dominant ◽  
Disease Type ◽  
Basement Membranes ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Autosomal Dominant Disorder ◽  
Medullary Cystic Kidney Disease ◽  
Familial Juvenile Hyperuricemic Nephropathy

Abstract. Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder heralded by hyperuricemia during childhood; it is characterized by chronic interstitial nephritis, with marked thickening of tubular basement membranes, and leads to progressive renal failure during adulthood. A gene for FJHN in two Czech families was recently mapped to chromosome 16p11.2, close to the MCKD2 locus, which is responsible for a variant of autosomal dominant medullary cystic kidney disease observed in an Italian family. In a large Belgian family with FJHN, a tight linkage between the disorder and the marker D16S3060, located within the MCKD2 locus on chromosome 16p12 (maximal two-point logarithmic odds score of 3.74 at a recombination fraction of θ = 0), was observed in this study. The candidate region was further narrowed to a 1.3-Mb interval between D16S501 and D16S3036. Together with the striking clinical and pathologic resemblance between previously reported medullary cystic kidney disease type 2 and FJHN occurring in the Belgian family (including the presence of medullary cysts), this study suggests that these two disorders are facets of the same disease.

Nephronophthisis and medullary cystic kidney disease

2018 ◽  
Author(s):  
John A. Sayer
Keyword(s):  
Renal Failure ◽  
Kidney Disease ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Autosomal Recessive Disorder ◽  
Later Life ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Medullary Cystic Kidney Disease ◽  
Precise Diagnosis

The inherited cystic kidney conditions nephronophthisis (NPHP) and medullary cystic kidney disease (MCKD) have previously been referred to as a NPHP–MCKD complex. This descriptive term was based on histological studies where the renal pathological features were common to both disorders. Both conditions may also present with insidious renal impairment and a urine concentrating defect, but they are genetically distinct. NPHP is an autosomal recessive disorder leading to established renal failure usually within the first three decades of life, and it is a ciliopathy. In contrast, MCKD is an autosomal dominantly inherited disorder leading to renal failure in later life, typically between 30 and 60 years of age. A molecular genetic diagnosis is helpful for both disorders, allowing a more precise diagnosis, screening of at risk relatives and avoiding the need for renal biopsy. Treatment of both conditions remains supportive.

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