Talk:Primary hyperoxaluria

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Conflict of interest edit request[edit]

Suggested changes to make the article up-to-date with current literature
Section Existing text Revised text with references Reason for suggested change
1. Pathophysiology No changes to existing text Add the following to existing text: Primary hyperoxaluria is caused by genetic defects that result in the overproduction of oxalate. This is different from secondary hyperoxaluria, which is caused by the increase in dietary and intestinal absorption of oxalate or excessive intake of oxalate precursors.[1] To distinguish between primary hyperoxaluria and secondary hyperoxaluria (another type of hyperoxaluria).  Done
2. Diagnosis, Classification There are three main types of primary hyperoxaluria, each associated with specific metabolic defects. Type 1 is the most common and rapidly progressing form, accounting for about 80% of all cases. Type 2 and 3 account for about approximately 10% each of the population. The three main types of primary hyperoxaluria (PH1, PH2, and PH3) are each associated with mutations in specific genes involved in the metabolism of glyoxylate, the precursor of oxalate. These mutations result in decreased production or activity of the proteins that are involved in the normal breakdown of glyoxylate, which results in an overproduction of oxalate.[2] PH1 is considered to be the most common and rapidly progressing form, accounting for about 80% of all currently diagnosed cases and PH2 and PH3 accounting for approximately 10% each of the current cases.[1][3]However, emerging evidence suggests that PH2 and PH3 are not as benign as previously thought. Up to 50% of patients with PH2 develop kidney failure (chronic kidney disease stage 5) at some point.[4] While current estimates indicate that kidney failure is rarer in patients with PH3 compared to PH1 and PH2, chronic kidney disease has been reported in patients with PH3. Moreover, the population prevalence of PH3 variants is much higher than observed frequency of the disease, which suggests either incomplete penetrance or underdiagnosis.[5] This adds recent literature evidence on classification, disease prevalence and severity for PH subtypes, especially the lesser understood subtypes (i.e., PH2 and PH3). check Partially implemented

‡ Added secondary source and modified text accordingly. Please review

2B. The three main types of primary hyperoxaluria (PH1, PH2, and PH3) are each associated with mutations in specific genes involved in the metabolism of glyoxylate, the precursor of oxalate. These mutations result in decreased production or activity of the proteins that are involved in the normal breakdown of glyoxylate, which results in an overproduction of oxalate.[6] Mutations in the genes AGXT and GRHPR cause PH1 and PH2, respectively, through decreased production or activity of the proteins they make, which stops the normal breakdown of glyoxylate. Similarly, mutations in the gene HOGA1 cause PH3 due to loss-of-function mutations resulting in impaired protein function.[7]

PH1 is considered to be the most common and rapidly progressing form, accounting for about 80% of all currently diagnosed cases and PH2 and PH3 accounting for approximately 10% each of the current cases.[1][8] However, recent evidence has suggested that PH2 and PH3 are not as benign as previously thought, with up to 50% of patients with PH2 developing kidney failure (chronic kidney disease [CKD] stage 5).[9]

(***While current estimates indicate that kidney failure is rarer in patients with PH3 compared to PH1 and PH2, chronic kidney disease has been reported in patients with PH3. Moreover, the genetic prevalence based on known PH3 variants is much higher than the diagnosed prevalence of the disease, which could mean either incomplete penetrance (i.e. variant present with no clinical symptoms) or underdiagnosis (i.e. variant present with clinical symptoms but not diagnosed).[10]***) (This is proposed text to be added after the existing text ending in "......patients with PH2 developing kidney failure (chronic kidney disease [CKD] stage 5). I have added the secondary source 10 to support this statement )
3. Diagnosis No changes to existing text Add the following to existing text: A diagnosis of primary hyperoxaluria is suspected based on presenting patient characteristics such as kidney stones in infants or children, recurrent kidney stones in adults, or family history of hyperoxaluria. In these patients, stone analysis and urine analysis are recommended to rule out secondary causes of hyperoxaluria. A definitive diagnosis of primary hyperoxaluria requires genetic testing. This is performed using a gene panel covering known mutations for all three types of primary hyperoxaluria.[11][12] Adds literature guidelines to aid in the diagnosis of this rare disorder  Done
4. Diagnosis Mutations in genes causing PH1 and PH2 result in decreased production or activity of the proteins they make, which stops the normal breakdown of glyoxylate. While mutation in genes causing PH3 results in its overactivity, resulting in excess conversion of hydroxyproline to glyoxylate. Please delete the existing sentence along with the reference (Belostotsky et al. 2010) The genetic mutations for the basis of PH1, PH2 and PH3 and their effects on glyoxylate metabolism have already been conveyed by my suggested edits above ("the three main types of primary hyperoxaluria (PH1, PH2, and PH3) are each associated with mutations in specific genes involved in..."). The statement about PH3 mutations resulting in overactivity as stated in Belostotsky et al (2010) is outdated as this position has since then been revised to state that PH3 mutations result in a loss-of-function of the protein as opposed to gain-of-function or overactivity[13][14]. check Partially implemented Used a different reference
5. Treatment Vitamin B6 (pyridoxine) is used for primary hyperoxaluria type1 as alanine glyoxylate transaminase require pyridoxine as cofactor. Vitamin B6 (pyridoxine) is used for PH1 as alanine glyoxylate transaminase requires pyridoxine as cofactor. In a proportion of patients with PH1 (about one-third)[15], pyridoxine treatment may decrease oxalate excretion and prevent kidney stone formation. The original statement "In a proportion of patients with primary hyperoxaluria type 1 (about 5%), pyridoxine treatment..." is outdated. Recent evidence shows different numbers. Added Wikipedia link to pyridoxine and made some grammar changes.  Done
6. Pathophysiology Kidney failure is a serious complication requiring treatment in its own right. Dialysis can control kidney failure but tends to be inadequate to dispose of excess oxalate. Renal transplant is more effective and this is the primary treatment of severe hyperoxaluria. Liver transplantation (often in addition to renal transplant) may be able to control the disease by correcting the metabolic defect.[citation needed] Kidney failure is a serious complication requiring treatment in its own right. Dialysis can control kidney failure but tends to be inadequate to dispose of excess oxalate. Renal transplant is more effective and is the primary treatment of severe hyperoxaluria. Ultimately though, liver transplantation (often in addition to renal transplant) is required to correct the underlying metabolic defect.[16][17] Added citations to substantiate the need for combined liver-kidney transplant. Also, this statement is better suited in the Treatment section.  Done
7. Treatment Lumasiran is indicated for the treatment of primary hyperoxaluria type 1 (PH1) in adults and children of all ages and is available under the UK Early Access to Medicines Scheme (EAMS). Lumasiran, an RNA interference therapeutic[18] is indicated for the treatment of primary hyperoxaluria type 1 (PH1) in adults and children of all ages and is available under the UK Early Access to Medicines Scheme (EAMS). Added link to RNA interference Wikipedia page to explain the class of drugs Lumasiran falls under.  Done
8. Treatment No changes to existing text Add the following to existing text: In addition, there are a few agents under investigation in clinical trials for PH: Nedosiran (RNA interference therapeutic) for PH1, PH2, and PH3; Stiripentol (antiepileptic drug); Oxabact (lyophilized Oxalobacter formigenes; and Reloxaliase (oxalate-digesting enzyme) for PH [19][20] This lists the therapeutic agents currently being investigated in clinical trials for primary hyperoxaluria.  Not done

‡ Added secondary sources and modified text accordingly. Please review
 Done



Iciplascarfern (talk) 21:40, 14 April 2021 (UTC)[reply]

thank you for your complete COI disclosure, due to the substantial request (some 16 items) we'll need to take a look at this slowly...will be looking over 1st point tonight, thank you --Ozzie10aaaa (talk) 20:27, 12 May 2021 (UTC)[reply]
have taken a look at edit request 1 as well as other '15 items' I dont see logic in many of these points raised above, therefore I believe you need another editor to look at this extensive list above, good luck--Ozzie10aaaa (talk) 11:52, 13 May 2021 (UTC)[reply]
Thank you for taking a look Ozzie10aaaa. The reason for this extensive list is that the information in the original article was scant and not adequately sourced (even had a request for needing more citations). There has been quite more recent evidence published in this area than what the article portrays. I apologize for adding all requests at once. Is there anything I could answer for you maybe? To help understand the rationale for these requests? I totally understand if not. Thank you for your guidance. Iciplascarfern (talk) 13:34, 13 May 2021 (UTC)[reply]
I have added #2 (signs and symptoms, marked as done in the list above) and #4 (renal→kidney, add source). The sources aren't what we consider "ideal" (e.g., we like review articles better than original research papers), but I thought that even though it would be possible to improve somewhat on it, just doing this much would be a major improvement to the article. Thank you for posting it. Maybe someone else could take a turn picking another one from the list. WhatamIdoing (talk) 19:02, 15 May 2021 (UTC)[reply]
I added #7 (description of Lumasiran - difficult to track these since the list has been edited and reformatted), marked as done above. Retswerb (talk) 02:13, 6 October 2021 (UTC)[reply]
I have added #1, #3, #5, #7 and marked done. SpencerT•C 02:51, 19 November 2021 (UTC)[reply]
Per WP:MEDRS, #2 is only partially done . The last two sentences are based on primary literature and were not added. If you can provide secondary sources supporting those statements, then they can be added. SpencerT•C 03:21, 19 November 2021 (UTC)[reply]
For #8, it relies on primary sources and is not done. If secondary sources can be found to back this statement, then it can be added. SpencerT•C 03:51, 19 November 2021 (UTC)[reply]
Added #4 with a secondary source as a reference, rather than primary literature. That should cover all of the edit requests. SpencerT•C 04:05, 19 November 2021 (UTC)[reply]
Thank you for your edits SpencerT•C. I have bolstered #2 and #8 with secondary sources and made changes to the text accordingly. Could you please take a look? Appreciate it. Iciplascarfern (talk) 20:25, 19 January 2022 (UTC)[reply]
{{u}Iciplascarfern}}, as I partially implemented #2, could you clarify any changes from the text currently in the article? I have created a new table row "2B" with the existing text, and please put your proposed changes for that text next to it. #8 looks good, so I will go ahead and add that. SpencerT•C 20:36, 19 January 2022 (UTC)[reply]
Thank you SpencerT•C. I have separated out the text that needs to be added to existing text. Iciplascarfern (talk) 21:04, 19 January 2022 (UTC)[reply]
IciplascarfernThe suggested addition is very closely paraphrased to the original source (which says "...the population prevalence of the most common variant is much higher than anticipated for the documented disease frequency, suggesting either incomplete penetrance or underdiagnosis"); could you reword this? Best, SpencerT•C 21:29, 19 January 2022 (UTC)[reply]
SpencerT•CI have reworded the sentence. Let me know if it reads fine now. Iciplascarfern (talk) 22:09, 19 January 2022 (UTC)[reply]
 Done SpencerT•C 22:29, 19 January 2022 (UTC)[reply]
Thank you so much SpencerT•C Iciplascarfern (talk) 13:17, 20 January 2022 (UTC)[reply]

References

  1. ^ a b c Bhasin, Bhavna; Ürekli, Hatice Melda; Atta, Mohamed G (6 May 2015). "Primary and secondary hyperoxaluria: Understanding the enigma". World Journal of Nephrology. 4 (2): 235–244. doi:10.5527/wjn.v4.i2.235. ISSN 2220-6124.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  2. ^ Hulton, SA (December 2016). "The primary hyperoxalurias: A practical approach to diagnosis and treatment". International journal of surgery (London, England). 36 (Pt D): 649–654. doi:10.1016/j.ijsu.2016.10.039. PMID 27815184.
  3. ^ Weigert, Alexander; Martin-Higueras, Christina; Hoppe, Bernd (2018-10-02). "Novel therapeutic approaches in primary hyperoxaluria". Expert Opinion on Emerging Drugs. 23 (4): 349–357. doi:10.1080/14728214.2018.1552940.
  4. ^ Weigert, Alexander; Martin-Higueras, Christina; Hoppe, Bernd (2018-10-02). "Novel therapeutic approaches in primary hyperoxaluria". Expert Opinion on Emerging Drugs. 23 (4): 349–357. doi:10.1080/14728214.2018.1552940.
  5. ^ Forbes, TA; Brown, BD; Lai, C (22 May 2021). "Therapeutic RNA interference: A novel approach to the treatment of primary hyperoxaluria". British journal of clinical pharmacology. doi:10.1111/bcp.14925. PMID 34022071.
  6. ^ Hulton, SA (December 2016). "The primary hyperoxalurias: A practical approach to diagnosis and treatment". International Journal of Surgery (London, England). 36 (Pt D): 649–654. doi:10.1016/j.ijsu.2016.10.039. PMID 27815184.
  7. ^ Milliner, DS; Harris, PC; Lieske, JC (September 24, 2015). "Primary Hyperoxaluria Type 3". In Adam MP; Ardinger HH; Pagon RA; et al. (eds.). GeneReviews. University of Washington, Seattle. PMID 26401545.
  8. ^ Weigert, Alexander; Martin-Higueras, Christina; Hoppe, Bernd (2018-10-02). "Novel therapeutic approaches in primary hyperoxaluria". Expert Opinion on Emerging Drugs. 23 (4): 349–357. doi:10.1080/14728214.2018.1552940. PMID 30540923. S2CID 56149313.
  9. ^ Weigert, Alexander; Martin-Higueras, Christina; Hoppe, Bernd (2018-10-02). "Novel therapeutic approaches in primary hyperoxaluria". Expert Opinion on Emerging Drugs. 23 (4): 349–357. doi:10.1080/14728214.2018.1552940. PMID 30540923. S2CID 56149313.
  10. ^ Forbes, TA; Brown, BD; Lai, C (22 May 2021). "Therapeutic RNA interference: A novel approach to the treatment of primary hyperoxaluria". British journal of clinical pharmacology. doi:10.1111/bcp.14925. PMID 34022071.
  11. ^ "Test ID: HYOX Hyperoxaluria Panel, Random, Urine" (PDF). Mayo clinic laboratories. Retrieved 14 April 2021.
  12. ^ Edvardsson, Vidar O.; Goldfarb, David S.; Lieske, John C.; Beara-Lasic, Lada; Anglani, Franca; Milliner, Dawn S.; Palsson, Runolfur (October 2013). "Hereditary Causes of Kidney Stones and Chronic Kidney Disease". Pediatric nephrology (Berlin, Germany). 28 (10): 1923–1942. doi:10.1007/s00467-012-2329-z. ISSN 0931-041X.
  13. ^ Monico, Carla G.; Rossetti, Sandro; Belostotsky, Ruth; Cogal, Andrea G.; Herges, Regina M.; Seide, Barbara M.; Olson, Julie B.; Bergstrahl, Eric J.; Williams, Hugh J.; Haley, William E.; Frishberg, Yaacov; Milliner, Dawn S. (1 September 2011). "Primary Hyperoxaluria Type III Gene HOGA1 (Formerly DHDPSL) as a Possible Risk Factor for Idiopathic Calcium Oxalate Urolithiasis". Clinical Journal of the American Society of Nephrology. 6 (9): 2289–2295. doi:10.2215/CJN.02760311. ISSN 1555-9041.
  14. ^ Forbes, Thomas A.; Brown, Bob D.; Lai, Chengjung (2021-06-11). "Therapeutic RNA interference: A novel approach to the treatment of primary hyperoxaluria". British Journal of Clinical Pharmacology: bcp.14925. doi:10.1111/bcp.14925.
  15. ^ Weigert, Alexander; Martin-Higueras, Christina; Hoppe, Bernd (2018-10-02). "Novel therapeutic approaches in primary hyperoxaluria". Expert Opinion on Emerging Drugs. 23 (4): 349–357. doi:10.1080/14728214.2018.1552940.
  16. ^ Lawrence, Jennifer E.; Wattenberg, Debra J. (12 March 2020). "Primary Hyperoxaluria: The Patient and Caregiver Perspective". Clinical Journal of the American Society of Nephrology. doi:10.2215/CJN.13831119. ISSN 1555-9041.
  17. ^ Milliner, Dawn S.; McGregor, Tracy L.; Thompson, Aliza; Dehmel, Bastian; Knight, John; Rosskamp, Ralf; Blank, Melanie; Yang, Sixun; Fargue, Sonia; Rumsby, Gill; Groothoff, Jaap; Allain, Meaghan; West, Melissa; Hollander, Kim; Lowther, W. Todd; Lieske, John C. (1 July 2020). "End Points for Clinical Trials in Primary Hyperoxaluria". Clinical Journal of the American Society of Nephrology. 15 (7): 1056–1065. doi:10.2215/CJN.13821119. ISSN 1555-9041.
  18. ^ Forbes, Thomas A.; Brown, Bob D.; Lai, Chengjung (2021-06-11). "Therapeutic RNA interference: A novel approach to the treatment of primary hyperoxaluria". British Journal of Clinical Pharmacology: bcp.14925. doi:10.1111/bcp.14925.
  19. ^ Shah, Aniruddh; Leslie, Stephen W.; Ramakrishnan, Sharanya (2022). "Hyperoxaluria". StatPearls. StatPearls Publishing.
  20. ^ Shee, K; Stoller, ML (8 December 2021). "Perspectives in primary hyperoxaluria - historical, current and future clinical interventions". Nature reviews. Urology. doi:10.1038/s41585-021-00543-4. PMID 34880452.
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