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Table of Contents
Year : 2022  |  Volume : 5  |  Issue : 1  |  Page : 14-20

Pediatric tubular and inherited disorders in asia: results of preliminary survey of the asian pediatric nephrology association (aspna) tubular and inherited working group

1 Department of Pediatrics, Division of Pediatric Nephrology, College of Medicine, University of the Philippines-Philippine General Hospital, Las Pinas, Philippines
2 Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan
3 Ali Asghar Clinical Research Development Center, Ali Asghar Children hospital, Iran University of Medical Sciences, Tehran, Iran
4 Department of Pediatric Nephrology, St John's Medical College Hospital, Bengaluru, India
5 Department of Pediatrics, Peking University First Hospital, Beijing, China
6 Department of Pediatrics, Seoul National University Children's Hospital, Seoul, South Korea

Date of Submission23-Jan-2022
Date of Decision15-May-2022
Date of Acceptance27-May-2022
Date of Web Publication28-Jun-2022

Correspondence Address:
Lourdes Paula Real Resontoc
47 Nimbus Street Moonwalk Village, Las Pinas
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ajpn.ajpn_2_22

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Background and Objective: The registries and guidelines for kidney diseases in children mostly do not include the Asian population and hence, its applicability is questionable. As a first step to address this question, the tubular and inherited disease working group of the Asian Pediatric Nephrology Association aimed to assess the current situation of pediatric tubular and inherited disorders in Asia. Methods: Our group conducted an online survey among the members of AsPNA from September to October 2020. Data collected included demographics, number of patients each physician cares for per year, methods of diagnosis, and access to genetic tests. Descriptive analysis was performed. Results: A total of 299 pediatric nephrologists from 21 countries in Asia participated. Distal renal tubular acidosis, Bartter syndrome, autosomal dominant polycystic kidney disease, autosomal recessive kidney disease, and Alport syndrome were the commonly reported diseases. Around 70% employed clinical history, radiologic imaging, and biochemical tests for diagnosis. More than half (55.4%) of the institutions have access to genetic testing. For future collaborative projects, 88% expressed interest to participate. Conclusions: The results highlight the diversity of disease prevalence, diagnostic practices, capability, and access to genetic tests across Asia. The data gathered from this preliminary survey can be used to address knowledge gaps, and improve management and outcomes.

Keywords: Alport syndrome, Bartter syndrome, hereditary, nephritis, polycystic kidney, renal tubular acidosis, tubulopathy

How to cite this article:
Real Resontoc LP, Kandai N, Hooman N, Vasudevan A, Ding J, Kang HG. Pediatric tubular and inherited disorders in asia: results of preliminary survey of the asian pediatric nephrology association (aspna) tubular and inherited working group. Asian J Pediatr Nephrol 2022;5:14-20

How to cite this URL:
Real Resontoc LP, Kandai N, Hooman N, Vasudevan A, Ding J, Kang HG. Pediatric tubular and inherited disorders in asia: results of preliminary survey of the asian pediatric nephrology association (aspna) tubular and inherited working group. Asian J Pediatr Nephrol [serial online] 2022 [cited 2022 Dec 2];5:14-20. Available from: https://www.ajpn-online.org/text.asp?2022/5/1/14/348523

  Introduction Top

While the outcomes of registries and guidelines for kidney diseases in children are coming out increasingly, most of them are regarding the non-Asian population.[1],[2],[3],[4],[5],[6],[7],[8],[9],[10],[11],[12],[13],[14],[15],[16],[17],[18] Knowledge from these studies is invaluable, but whether it can be directly applicable to the Asian population is questionable. It is not clear if the prevalence and diagnostic approach to inherited tubular disorders and Alport syndrome in Asia are the same as those seen in Europe and America, but there are other genetic causes of kidney diseases that differ between these regions. For example, NPHS2 is the most common genetic cause of steroid-resistant nephrotic syndrome in European countries, but it is not very common in Asia.[19] Besides, the opportunity to participate in clinical trials is also missed because information about the prevalence of most pediatric kidney diseases in Asia is limited.[20],[21] Therefore, we need to have data from Asian registries and guidelines directly applicable to our population. The Tubular and Inherited Disease Working Group of the Asian Pediatric Nephrology Association (AsPNA) was formed to address these needs. The working group has at least one member from each sub-region of Asia. Target diseases to be studied include Alport syndrome, autosomal dominant and autosomal recessive polycystic kidney disease, autosomal dominant tubulointerstitial kidney disease, and other tubular diseases.[22] The ultimate goal of the working group is to improve the outcomes of the target diseases. For this purpose, we need to know which diseases are more common, so that we can focus on the common diseases to develop position statements and educate about these diseases in Asia.

Since the target diseases are numerous, diverse, and rare, the first task of the working group was to figure out which diseases among the target diseases to work on, especially because very little is known about their prevalence in our region.

For this purpose, we conducted a survey to estimate the frequency of the diagnosis of Alport syndrome and genetic tubular disorders of the kidney among Asian children.

  Methods Top

Survey development and conduct

We developed a web-based survey that included the following information:

(1) Respondents' background, country of origin, institutional affiliation, and the length of experience as nephrologist; (2) list of 27 primary tubular disorders and Alport syndrome; (3) basis of diagnosis (clinical and/or laboratory investigations); (4) availability and/or accessibility to genetic tests; and (5) willingness to participate in future collaborations on specific disorders that can negatively impact patient and kidney outcomes. We ascertained content validity, interpretability, and length of the survey by pilot testing. Inputs from the members of the working group yielded the final survey instrument provided as Supplementary Material. The two sections required close- and open-ended questions. Section 1 had five questions that entailed free-text responses on the respondent's personal information. In addition, a scale (0, 1-4, 5–10, and >10) corresponding to the average number of patients seen per year enquired about each of the 28 listed diseases, while one open-ended question asked about “other” tubular and inherited disorders. Also included were multiple-choice questions based on diagnosis and a dichotomous question on the willingness to participate in multicenter-multicounty studies. Section 2 consisted of multiple-choice questions on the seven ancillary tests used for diagnosis and a dichotomous question on the diseases diagnosed using genetic tests. Using the Google platform or its equivalent for China, the final survey was administered by sending the link using the valid e-mail addresses of members of the AsPNA in September 2020. In centers with more than one nephrologist managing the same patients, the response of one nephrologist representing the center's data was selected for the analysis. Completion of the survey implied consent to participation. The survey closed on the last day of October 2020. Respondents did not receive remuneration for participating in this survey.

Statistical analysis

We used SPSS software (version 20.0 for Windows©, SPSS Inc, Chicago, Ill, USA) in analyzing the data. We reported categorical variables as counts and percentages while continuous variables were reported as the median. Thematic analysis was performed to code for open-ended responses and subsequent classification into specific categories. We analyzed the patient number by the following rule; when the answer was “1-4,” it was counted as 1, “5-9” was counted as 5, and more than 10 was counted as 10.


This study did not require human subjects or sensitive data covered by the data privacy act; hence, we sought for waiver of consent.

  Results Top

We received responses from 299 pediatric nephrologists from four out of the six regions in Asia. The respondents came from four countries in West Asia (WA), five countries in East Asia (EA), six countries in South Asia (SA), and six countries in Southeast Asia (SEA) [Figure 1]. China (n = 85), Japan (n = 52), and the Philippines (n = 32) have the largest number of survey participants. The median duration of practice was 12 years (range 1–50 years) with most (66.6%) affiliated with government-funded academic and research institutions. Twenty-eight (9.8%) of the respondents were private practitioners, while 23% were involved in multiple practice types (i.e., academic and research institutions at the same time private practitice).
Figure 1: Number of participating institutions from various Asian countires

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For the number of cases seen annually by each of the nephrologists for each of the 28 diseases included in the questionnaire, 57.9% had seen <5 cases, 18.4% had seen an average of 5–10, while the rest, especially those with more than 10 years of practice, had seen more than ten cases per year for the more common diseases on the list. Interestingly, 14% respondents had not seen a single case of tubular and inherited kidney diseases; these were mostly those with <5 years of pediatric nephrology practice as well as those from low-middle income countries or low-resource settings. The two most common tubular diseases seen were distal renal tubular acidosis (dRTA), seen by 85.3%, and Bartter syndrome, seen by 80% of the respondents. Two inherited cystic kidney diseases, autosomal dominant polycystic kidney disease (ADPKD), were seen and autosomal recessive kidney disease (ARPKD) by 78.5% and 76% respondents, respectively; and a disorder of glomerular basement membrane, Alport syndrome, was seen by 80.3% of the respondents. These were the top-five tubular and inherited disorders reported in our region. We also noted differences in disease prevalence for each region of Asia. For example, SA and SEA reported distal renal tubular disorders frequently, while Alport syndrome was excessively common in EA and Pakistan [Figure 2]. The number of Alport cases reported in Japan, China, Korea, Mongolia, Hong Kong, and Pakistan ranged from 3 to 7.5 per institution compared to the number of patients seen per institution, ranging from 0 to 1.3, 0.7–1.7, and 0–1.8, seen in SEA, SA, and most of WA, respectively [Figure 2]. Respondents representing four countries from Western Asia (WA) reported idiopathic hypercalciuria, Bartter syndrome, Gitelman syndrome, and nephronophthisis as the more commonly seen tubular and inherited disorders. Diseases infrequently included were X-linked hypophosphatemic rickets (XLHPR), autosomal dominant tubulointerstitial kidney disease (ADTKD), primary hyperoxaluria, cystinuria, Dent disease, Lowe syndrome, hereditary Fanconi syndrome, and autosomal recessive hypocalciuria, and were mostly reported in Iran, China, Japan, and Korea.
Figure 2: Number of Alport syndrome (blue) and distal renal tubular acidosis (red) cases per institution

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Diagnosis relied mostly on clinical history, biochemical tests and radiologic imaging; a considerable fraction employed genetic testing [Figure 3] and [Figure 4]. Although more than half of the institutions have access to genetic tests, not all had in-house genetic testing capabilities. More than 90% in EA employ genetic testing for diagnosis compared to 58.9% in SEA, 56% in WA, and 39% in SA. As an ancillary test, 43% utilized ultrasound-guided percutaneous kidney biopsy.
Figure 3: Percentage of primary tubular kidney diseases and Alport syndrome that had genetic diagnosis

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Figure 4: Basis for the diagnosis of rare tubular and inherited kidney diseases

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For future collaborative projects, 88% respondents expressed their interest to participate in at least one of the diseases listed.

  Discussion Top

We received responses from AsPNA members representing a sizeable part of the Asian region. The majority of the respondents reported affiliation with government-funded academic and research institutions, implying that rare kidney diseases entail diagnosis and management in tertiary or specialized centers. The diagnoses were largely based on clinical and family history, laboratory testing and radiologic imaging. Where necessary, few centers employed kidney biopsy as an ancillary procedure. Although the final diagnosis of rare tubular and inherited kidney diseases rests on genetic testing, only a few centers, especially those with in-house capability, utilized genetic testing to confirm the diagnosis. For those with no institutional capability for genetic testing, testing was easily accessible in another center within the country or overseas. Issues or reasons for the nonutilization of genetic tests in the majority of the respondents would be worth exploring.

Of the 28 diseases listed, we identified the five most common tubular and inherited diseases in our region. Distal RTA and Bartter syndrome, both rare inherited salt-losing tubular disorders with significant variability in the clinical expression of the disease were the most common tubular diseases reported. Studies on dRTA and Bartter coming from our region are case reports and case series describing the clinical features, molecular genetics, electrolyte, and fluid requirements but not disease outcomes nor epidemiological studies even at the level of national registries in any of the participating countries.[23],[24],[25],[26],[27],[28],[29],[30] To date, there is no record of the true prevalence of these diseases in our region. Worldwide, the estimate of the prevalence of these two diseases is unknown (National Organization for Rare Disorders) but one study estimated the prevalence of dRTA to be <1 in 100,000 people, while Bartter is even rarer with a prevalence of 1 in 1,000,000.[31],[32]

While reported as the most common inherited kidney disease with a global prevalence of 1 in 1000, ADPKD was not as frequently reported in our survey compared to Alport, dRTA, and Bartter syndrome.[33] Perhaps, patients are asymptomatic in childhood and invariably express the typical phenotypes only on reaching advanced age, thus are not included in the census of most pediatric nephrologists who participated in our survey. Moreover, ARPKD, which frequently presents with greater morbidity in infancy and childhood with a global estimated incidence of 1 in 20,000, was even less commonly reported and the probable reason for low representation can be the high neonatal and infant mortality even before they can be worked up, or a large possibility of misdiagnosis because of the overlapping spectrum of symptoms with other diseases especially those presenting with failure to thrive.[33]

We likewise observed disparities in the geographic distribution of the diseases. For instance, dRTA was more prevalent in SA and SEA while Alport syndrome was largely reported in EA and Pakistan. A histopathological study on the spectrum of chronic kidney diseases in central China revealed that Alport comprised almost half (49.6%) of the hereditary and congenital diseases.[34] In SEA, recent genetic studies on proteinuric diseases revealed that a third of patients with pathogenic variants for Alport syndrome did not present with features suggestive of Alport and therefore, in the absence of genetic testing, it can be missed. This is probably one factor contributing to the low prevalence of Alport syndrome in SEA.[35] Although the overall incidence of Alport syndrome in the general population is unknown, it is estimated to be 1 in every 50,000 live births worldwide. In the U. S., it is believed to affect 1 in every 5000 people and accounts for 3% of children with kidney failure and 0.2% of adults with kidney failure.[36] Across Europe, that estimate ranges from 1 in 100,000 people to 1 in every 11,000 while the estimated prevalence of Alport in the general adult population in Australia is about 2.4 people out of every 1 million.[37],[38] The recent inclusion of genetic testing for Alport syndrome in other countries in Asia would help establish the true burden of the disease in our region.

Reporting of other diseases on the list, particularly, XLHPR, cystinuria, Dent disease, Lowe, Fanconi, autosomal recessive hypocalciuria, and ADTKD, came from highly specialized centers from countries with diagnostic and treatment capabilities. However, this may not necessarily mean the nonexistence of the disease. It can be just undiagnosed, thus this cannot provide an accurate picture of these conditions in Asia. Diseases with a recessive pattern of inheritance such as nephronophthisis were reported to come from countries where consanguinity is customary.

Being rare disorders, some challenges arising from the low prevalence may be knowledge deficiency in the recognition, work-up, and management of the disease. A survey done in Belgium revealed that late or misdiagnosis of rare diseases is often due to low awareness about rare diseases not just by the general practitioners, but even by specialists, as we have found in our survey that 14% of pediatric nephrologists have not seen a single case of any of the 28 diseases listed in the survey.[39] The scarcity of expertise in areas deemed as hot spots for some rare diseases is also a possible reason as most specialists are clustered in the big cities. Socioeconomic factors, health-care inequities or healthcare systems with lack of access to correct diagnosis, absence of multidisciplinary health-care team and support, shortage of quality information, unavailability of drugs for appropriate treatment, or undue social consequences of the patients might be contributory.

Several limitations of this study must be addressed. The survey only included members of the AsPNA, and thus, it may have not captured the true burden of the diseases in Asia. We also used a scale to gauge the prevalence of the diseases, thus we cannot ascertain the exact number of patients. This however will be addressed in the subsequent projects of the group. The results of this preliminary survey will allow us to jumpstart collaborative projects to address knowledge gaps as well as identify inequities in access to important diagnostic tests, as a correct diagnosis is crucial in the management of most of the conditions.

We recommend not only including tubular and inherited diseases in regular lectures or continuing medical education sessions but also tailoring the information and education according to the needs and preferences of pediatric nephrologists in the region to promote awareness and improve rare disease recognition.

  Conclusion Top

The data gathered from this preliminary survey can be utilized to set up patient registries, develop clinical practice guidelines for fast and correct diagnosis and treatment, as well as improve disease outcomes. To bridge the gaps in the knowledge of the disease, diagnostic practices, and access to genetic tests, a network for broader collaborations is needed in undertaking prospective research studies.

Ethical clearance

As this study did not require human subjects or sensitive data covered by the data privacy act, the need for patient consent was waived byt eh Ethics committee.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

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