Renal cysts and diabetes syndrome

Medical condition

Renal cysts and diabetes syndrome

Other names| MODY 5
MODY 5 is inherited in an autosomal dominant manner.

Renal cysts and diabetes syndrome (RCAD), also known as MODY 5 or HNF1B-MODY, is a form of maturity onset diabetes of the young.

## Presentation

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HNF1β-related MODY is one of the less common forms of MODY, with some distinctive clinical features, including atrophy of the pancreas and several forms of renal disease. HNF1β, also known as transcription factor 2 (TCF2), is involved in early stages of embryonic development of several organs, including the pancreas, where it contributes to differentiation of pancreatic endocrine Ngn3+ cell progenitors from non-endocrine embryonic duct cells. The gene is on chromosome 17q.[1]

The degree of insulin deficiency is variable. Diabetes can develop from infancy through middle adult life, and some family members who carry the gene remain free of diabetes into later adult life. Most of those who develop diabetes show atrophy of the entire pancreas, with mild or subclinical deficiency of exocrine as well as endocrine function.[citation needed]

The non-pancreatic manifestations are even more variable. Kidney and genitourinary malformation and diseases may occur, but inconsistently even within a family, and the specific conditions include a range of apparently unrelated anomalies and processes. The most common genitourinary condition is cystic kidney disease, but there are many varieties even of this. Renal effects begin with structural alterations (small kidneys, renal cysts, anomalies of the renal pelvis and calices), but a significant number develop slowly progressive chronic kidney failure associated with chronic cystic disease of the kidneys. In some cases, renal cysts may be detected in utero. Kidney disease may develop before or after hyperglycemia, and a significant number of people with MODY5 are discovered in renal clinics.

With or without kidney disease, some people with forms of HNF1β have had various minor or major anomalies of the reproductive system. Male defects have included epididymal cysts, agenesis of the vas deferens, or infertility due to abnormal spermatozoa. Affected women have been found to have vaginal agenesis, hypoplastic, or bicornuate uterus.[citation needed]

Liver enzyme elevations are common, but clinically significant liver disease is not. Hyperuricaemia and early onset gout have occurred.[citation needed]

## Causes

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Renal cysts and diabetes syndrome is caused by mutations in or deletions of the HNF1B gene. These can be intragenic HNF1B mutations or affect other genes as well, such as in 17q12 microdeletion syndrome.[citation needed]

## Diagnosis

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Genetic Testing for mutations on the HNF1B gene can indicate MODY 5. The presence of familiar and individual renal problems as well as diabetes mellitus with absence of Type 1 and LADA antibodies in young individuals with a healthy lifestyle can lead to testing.[citation needed]

## Management

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Treatment is dependent on the phenotype. Hyperglycaemia can be treated with insulin, oral medication or, according to newest data, with GLP-1 analogs. Sulfonylurea has been described as ineffective. Pancreatic exocrine insufficiency is treated with pancreatic enzymes such as Kreon. Some patients take magnesium supplementation or intravenous infusions. Patients with both kidney failure and diabetes can request a simultaneous pancreas and kidney transplant.[citation needed]

## References

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1. ^ Bingham C, Hattersley AT (November 2004). "Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta". Nephrol. Dial. Transplant. 19 (11): 2703–8\. doi:10.1093/ndt/gfh348. PMID 15496559.2703-8&rft.date=2004-11&rft_id=info:doi/10.1093/ndt/gfh348&rft_id=info:pmid/15496559&rft.aulast=Bingham&rft.aufirst=C&rft.au=Hattersley,+AT&rfr_id=info:sid/en.wikipedia.org:Renal+cysts+and+diabetes+syndrome" class="Z3988">

## External links

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Classification|

* ICD-10: E11.2
* OMIM: 137920
* MeSH: C535520

|

External resources|

* Orphanet: 93111

* v
* t
* e

Disease of the pancreas and glucose metabolism

Diabetes|

* Types
* type 1
* type 2
* gestational
* MODY 1 2 3 4 5 6
* Complications
* See Template:Diabetes

Abnormal blood glucose levels|

* Hyperglycemia
* Oxyhyperglycemia
* Hypoglycemia
* Whipple's triad

Insulin disorders|

* Insulin resistance
* Hyperinsulinism
* Congenital hyperinsulinism
* Rabson–Mendenhall syndrome

Other pancreatic disorders and conditions|

* Pancreatic beta cell function
* Insulinoma
* Insulitis

* v
* t
* e

Genetic disorders relating to deficiencies of transcription factor or coregulators

(1) Basic domains|

| 1.2|

* Feingold syndrome
* Saethre–Chotzen syndrome

|

1.3|

* Tietz syndrome

(2) Zinc finger
DNA-binding domains|

| 2.1|

* (Intracellular receptor): Thyroid hormone resistance
* Androgen insensitivity syndrome
* PAIS
* MAIS
* CAIS
* Kennedy's disease
* PHA1AD pseudohypoaldosteronism
* Estrogen insensitivity syndrome
* X-linked adrenal hypoplasia congenita
* MODY 1
* Familial partial lipodystrophy 3
* SF1 XY gonadal dysgenesis

|

2.2|

* Barakat syndrome
* Tricho–rhino–phalangeal syndrome

2.3|

* Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome
* Denys–Drash syndrome
* Duane-radial ray syndrome
* MODY 7
* MRX 89
* Townes–Brocks syndrome
* Acrocallosal syndrome
* Myotonic dystrophy 2

2.5|

* Autoimmune polyendocrine syndrome type 1

(3) Helix-turn-helix domains|

| 3.1|

* ARX
* Ohtahara syndrome
* Lissencephaly X2
* MNX1
* Currarino syndrome
* HOXD13
* SPD1 synpolydactyly
* PDX1
* MODY 4
* LMX1B
* Nail–patella syndrome
* MSX1
* Tooth and nail syndrome
* OFC5
* PITX2
* Axenfeld syndrome 1
* POU4F3
* DFNA15
* POU3F4
* DFNX2
* ZEB1
* Posterior polymorphous corneal dystrophy
* Fuchs' dystrophy 3
* ZEB2
* Mowat–Wilson syndrome

|

3.2|

* PAX2
* Papillorenal syndrome
* PAX3
* Waardenburg syndrome 1&3
* PAX4
* MODY 9
* PAX6
* Gillespie syndrome
* Coloboma of optic nerve
* PAX8
* Congenital hypothyroidism 2
* PAX9
* STHAG3

3.3|

* FOXC1
* Axenfeld syndrome 3
* Iridogoniodysgenesis, dominant type
* FOXC2
* Lymphedema–distichiasis syndrome
* FOXE1
* Bamforth–Lazarus syndrome
* FOXE3
* Anterior segment mesenchymal dysgenesis
* FOXF1
* ACD/MPV
* FOXI1
* Enlarged vestibular aqueduct
* FOXL2
* Premature ovarian failure 3
* FOXP3
* IPEX

3.5|

* IRF6
* Van der Woude syndrome
* Popliteal pterygium syndrome

(4) β-Scaffold factors
with minor groove contacts|

| 4.2|

* Hyperimmunoglobulin E syndrome

|

4.3|

* Holt–Oram syndrome
* Li–Fraumeni syndrome
* Ulnar–mammary syndrome

4.7|

* Campomelic dysplasia
* MODY 3
* MODY 5
* SF1
* SRY XY gonadal dysgenesis
* Premature ovarian failure 7
* SOX10
* Waardenburg syndrome 4c
* Yemenite deaf-blind hypopigmentation syndrome

4.11|

* Cleidocranial dysostosis

(0) Other transcription factors|

| 0.6|

* Kabuki syndrome

|

Ungrouped|

* TCF4
* Pitt–Hopkins syndrome
* ZFP57
* TNDM1
* TP63
* Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8

Transcription coregulators|

| Coactivator:|

* CREBBP
* Rubinstein–Taybi syndrome

|

Corepressor:|

* HR (Atrichia with papular lesions)

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