Renal tubular dysgenesis due to twin-twin transfusion

MedGen UID:: 1766862
•Concept ID:: C5438872
•: Congenital Abnormality

Synonyms:	Renal tubular dysgenesis due to twin to twin transfusion; renal tubular dysgenesis due to twin-twin transfusion
SNOMED CT:	Renal tubular dysgenesis due to twin-twin transfusion (1003861008); Renal tubular dysgenesis due to twin to twin transfusion (1003861008)
Modes of inheritance:	Not genetically inherited MedGen UID: 988794 •Concept ID: CN307044 • Finding Source: Orphanet clinical entity without genetic inheritance. See: This record Not genetically inherited (Orphanet)

Monarch Initiative:	MONDO:0019984
Orphanet:	ORPHA97367

Definition

A rare acquired form of renal tubular dysgenesis that develops in donor fetuses due to the shunting of blood flow to the kidney of the recipient and characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects). [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVRenal tubular dysgenesis due to twin-twin transfusion

Abnormality of the upper urinary tract
- Abnormality of the kidney
  - Abnormal renal morphology
    - Abnormal nephron morphology
      - Abnormal renal tubule morphology
        Renal tubular dysgenesis
        Renal tubular dysgenesis due to twin-twin transfusion

Recent clinical studies

Etiology

Renal tubular dysgenesis in Israel: pathologist's experience and literature review.

Moldavsky M
Isr Med Assoc J 2009 Jan;11(1):6-10. PMID: 19344005

Twin-to-twin transfusion syndrome. Role of the fetal renin-angiotensin system.

Mahieu-Caputo D, Dommergues M, Delezoide AL, Lacoste M, Cai Y, Narcy F, Jolly D, Gonzales M, Dumez Y, Gubler MC
Am J Pathol 2000 Feb;156(2):629-36. doi: 10.1016/S0002-9440(10)64767-0. PMID: 10666392 Free PMC Article

Renal tubular dysgenesis in twin-twin transfusion syndrome.

Oberg KC, Pestaner JP, Bielamowicz L, Hawkins EP
Pediatr Dev Pathol 1999 Jan-Feb;2(1):25-32. doi: 10.1007/s100249900086. PMID: 9841703

See all (3)

Diagnosis

Renal tubular dysgenesis.

Gubler MC
Pediatr Nephrol 2014 Jan;29(1):51-9. Epub 2013 May 1 doi: 10.1007/s00467-013-2480-1. PMID: 23636579

Non-specific histopathological changes in kidney with renal tubular dysgenesis.

Moldavsky M
Pathol Res Pract 2010 Jan 15;206(1):14-8. Epub 2009 Jul 18 doi: 10.1016/j.prp.2009.06.012. PMID: 19616900

Renal tubular dysgenesis in Israel: pathologist's experience and literature review.

Moldavsky M
Isr Med Assoc J 2009 Jan;11(1):6-10. PMID: 19344005

Renal tubular dysgenesis (RTD) - an important cause of the oligohydramnion-sequence. Report of 3 cases and review of the literature.

Kriegsmann J, Coerdt W, Kommoss F, Beetz R, Hallermann C, Müntefering H
Pathol Res Pract 2000;196(12):861-5. doi: 10.1016/s0344-0338(00)80090-4. PMID: 11156331

See all (4)

Therapy

Renal tubular dysgenesis-like lesions and hypocalvaria. Report of two cases involving indomethacin.

Robin YM, Reynaud P, Orliaguet T, Lemery D, Vanlieferingen P, Dechelotte P
Pathol Res Pract 2000;196(11):791-4. doi: 10.1016/S0344-0338(00)80115-6. PMID: 11186177

Renal tubular dysgenesis in twin-twin transfusion syndrome.

Oberg KC, Pestaner JP, Bielamowicz L, Hawkins EP
Pediatr Dev Pathol 1999 Jan-Feb;2(1):25-32. doi: 10.1007/s100249900086. PMID: 9841703

See all (2)

Prognosis

Renal tubular dysgenesis in Israel: pathologist's experience and literature review.

Moldavsky M
Isr Med Assoc J 2009 Jan;11(1):6-10. PMID: 19344005

Renal tubular dysgenesis-like lesions and hypocalvaria. Report of two cases involving indomethacin.

Robin YM, Reynaud P, Orliaguet T, Lemery D, Vanlieferingen P, Dechelotte P
Pathol Res Pract 2000;196(11):791-4. doi: 10.1016/S0344-0338(00)80115-6. PMID: 11186177

Renal tubular dysgenesis (RTD) - an important cause of the oligohydramnion-sequence. Report of 3 cases and review of the literature.

Kriegsmann J, Coerdt W, Kommoss F, Beetz R, Hallermann C, Müntefering H
Pathol Res Pract 2000;196(12):861-5. doi: 10.1016/s0344-0338(00)80090-4. PMID: 11156331

See all (3)